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: rs113436208
rs113436208
LMNA
0.925 0.160 1 156138758 splice donor variant G/A;C snv
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs267607181
rs267607181
ZMPSTE24
1.000 0.120 1 40271981 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs281875360
rs281875360
ZMPSTE24
1.000 0.120 1 40258320 frameshift variant A/- delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs281875361
rs281875361
ZMPSTE24
1.000 0.120 1 40258324 frameshift variant -/T delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs281875367
rs281875367
ZMPSTE24
1.000 0.120 1 40270084 frameshift variant -/T delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs386134243
rs386134243
LMNA
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs58596362
rs58596362
LMNA
0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0
dbSNP: rs786205123
rs786205123
ZMPSTE24
1.000 0.120 1 40270083 frameshift variant AT/- delins
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0