ClinVar Miner

List of variants reported as likely pathogenic for Type IV short rib polydactyly syndrome

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Total variants: 11
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HGVS dbSNP
NM_001199397.2(NEK1):c.418G>A (p.Gly140Arg) rs1301705612
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230
NM_020800.3(IFT80):c.487_490del (p.Leu163fs) rs1553764834
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) rs1451698951
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710

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