ClinVar Miner

List of variants studied for arthrogryposis syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (130):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
GRCh38/hg38 Xq11.2(chrX:64951692-65166933)x1
NM_001378183.1(PIEZO2):c.2004del (p.Glu668fs)
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_003289.4(TPM2):c.13_57dup (p.Ile19_Asp20insLysLysLysMetGlnMetLeuLysLeuAspLysGluAsnAlaIle)
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_004826.4(ECEL1):c.2314T>C (p.Cys772Arg)
NM_005055.5(RAPSN):c.803G>T (p.Arg268Met)
NM_005592.4(MUSK):c.909dup (p.Ala304fs) rs2131877883
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs) rs1929136990
NM_018684.4(ZC4H2):c.3G>A (p.Met1Ile)
NM_018684.4(ZC4H2):c.535_538dup (p.Arg180fs) rs1929057804
NM_018684.4(ZC4H2):c.551del (p.Pro184fs)
NM_018684.4(ZC4H2):c.561+7G>A rs1929057022
NM_181789.4(GLDN):c.1494G>C (p.Leu498Phe)
NM_181789.4(GLDN):c.363+1G>A rs556661550
NM_181789.4(GLDN):c.59T>C (p.Leu20Pro) rs1595795307

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