ClinVar Miner

List of variants reported as uncertain significance for Ritscher-Schinzel syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_014846.4(WASHC5):c.1178G>A (p.Arg393His)
NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro)
NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu)
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn) rs758919422
NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val)
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)
NM_014846.4(WASHC5):c.2090_2092TCA[1] (p.Ile698del) rs1554593551
NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val)
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279
NM_014846.4(WASHC5):c.2769C>T (p.Val923=)
NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) rs1554591077
NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys)
NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln)
NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) rs1563636568
NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln)
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606

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