ClinVar Miner

List of variants studied for arthrogryposis, distal, IIa 11 by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03399
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565 0.00153
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000245.4(MET):c.1263C>T (p.Thr421=) rs45499391 0.00016
NM_000245.4(MET):c.632T>G (p.Leu211Trp) rs45483396 0.00005
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.1881T>C (p.Gly627=) rs200050499 0.00004
NM_000245.4(MET):c.1510G>T (p.Val504Phe) rs587780735 0.00003
NM_000245.4(MET):c.617T>C (p.Phe206Ser) rs746295363 0.00003
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln) rs752694306 0.00002
NM_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243 0.00001
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) rs369838973 0.00001
NM_000245.4(MET):c.2074A>G (p.Ile692Val)
NM_000245.4(MET):c.3688T>C (p.Tyr1230His) rs121913247
NM_000245.4(MET):c.3945A>T (p.Val1315=) rs879254340
NM_000245.4(MET):c.73G>T (p.Glu25Ter) rs2116579525
NM_000245.4(MET):c.934G>A (p.Glu312Lys)

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