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: rs1131691015
rs1131691015
TP53
17 7676379 splice donor variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691041
rs1131691041
TP53
17 7676271 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1567542146
rs1567542146
TP53
1.000 0.120 17 7670694 frameshift variant -/A ins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567546818
rs1567546818
TP53
17 7673707 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1567549651
rs1567549651
TP53
1.000 0.120 17 7674248 frameshift variant -/A delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567550002
rs1567550002
TP53
1.000 0.120 17 7674281 frameshift variant -/A delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs786202514
rs786202514
TP53
17 7675096 frameshift variant -/ACCTC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587782609
rs587782609
TP53
17 7676211 stop gained -/ATT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1267047192
rs1267047192
TP53
1.000 0.120 17 7675997 frameshift variant -/C delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
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: rs1555525226
rs1555525226
TP53
17 7673777 frameshift variant -/C ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1567551279
rs1567551279
TP53
1.000 0.120 17 7674879 frameshift variant -/CACAC delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1195793509
rs1195793509
TP53
1.000 0.120 17 7676210 stop gained -/CATT delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1555526784
rs1555526784
TP53
17 7676244 stop gained -/CCAT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs863223301
rs863223301
TP53
0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs863223301
rs863223301
TP53
0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		0.700 0
dbSNP: rs1567546889
rs1567546889
TP53
1.000 0.120 17 7673711 frameshift variant -/CCCC delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1555525158
rs1555525158
TP53
17 7673757 frameshift variant -/CT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555525156
rs1555525156
TP53
17 7673756 frameshift variant -/CTTCTCTTCCTCTGTGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2003 2003
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: rs1555527002
rs1555527002
TP53
1.000 0.120 17 7676556 frameshift variant -/G delins
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs1567556454
rs1567556454
TP53
1.000 0.120 17 7676144 frameshift variant -/G delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		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