ClinVar Miner

List of variants reported as likely benign for Ritscher-Schinzel syndrome

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.1668C>T (p.Phe556=) rs199725572
NM_014846.4(WASHC5):c.1785G>T (p.Leu595=) rs1044612540
NM_014846.4(WASHC5):c.2016+10C>G rs1260941212
NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=) rs200733182
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524
NM_014846.4(WASHC5):c.885G>A (p.Gly295=) rs1435894101

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