Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555526470
rs1555526470
TP53
1.000 0.120 17 7675992 splice region variant -/C delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 2 2007 2010
dbSNP: rs1555523630
rs1555523630
TP53
1.000 0.120 17 7668202 intron variant -/C delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555525140
rs1555525140
TP53
1.000 0.120 17 7673749 frameshift variant -/G delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1131691004
rs1131691004
TP53
1.000 0.120 17 7676039 frameshift variant -/GAAACCG delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs1567552753
rs1567552753
TP53
1.000 0.120 17 7675076 frameshift variant -/GGTGGGGGCAGCGCCTCAC delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555526748
rs1555526748
TP53
1.000 0.120 17 7676212 frameshift variant -/T delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555526495
rs1555526495
TP53
1.000 0.120 17 7676004 frameshift variant -/TTGGCTGTCCCAGAATGCAAGAAGCCCAGAC delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555526593
rs1555526593
TP53
1.000 0.120 17 7676074 frameshift variant A/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555526997
rs1555526997
TP53
1.000 0.120 17 7676550 frameshift variant A/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs193920789
rs193920789
TP53
1.000 0.120 17 7674249 missense variant A/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1057519986
rs1057519986
TP53
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 2 2003 2003
dbSNP: rs864622237
rs864622237
TP53
0.716 0.320 17 7674263 missense variant A/C;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 9 1994 2013
dbSNP: rs876660821
rs876660821
TP53
0.689 0.400 17 7675075 missense variant A/C;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 9 2003 2018
dbSNP: rs760043106
rs760043106
TP53
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 6 2003 2016
dbSNP: rs1057519981
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/C;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 1 1990 2014
dbSNP: rs1555526469
rs1555526469
TP53
0.925 0.240 17 7675992 splice donor variant A/C;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs587780074
rs587780074
TP53
0.925 0.200 17 7674226 missense variant A/C;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1131691016
rs1131691016
TP53
0.925 0.240 17 7673699 splice donor variant A/C;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs879253942
rs879253942
TP53
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 7 1990 2017
dbSNP: rs121912662
rs121912662
TP53
0.925 0.120 17 7670678 missense variant A/G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 3 1990 2017
dbSNP: rs1057523347
rs1057523347
TP53
0.925 0.160 17 7673789 stop gained A/G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555525703
rs1555525703
TP53
1.000 0.120 17 7674857 splice donor variant A/T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 4 2003 2013
dbSNP: rs1567547933
rs1567547933
TP53
1.000 0.120 17 7673799 frameshift variant AC/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567549676
rs1567549676
TP53
1.000 0.120 17 7674249 frameshift variant ACACATGTAGTTG/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567548832
rs1567548832
TP53
1.000 0.120 17 7674175 splice donor variant ACCTG/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2010 2010