ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs) rs765926045
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) rs1462319941
NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter)
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter)
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) rs1563633906

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