ClinVar Miner

List of variants in gene RAB23 reported as likely benign for acrocephalosyndactyly

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_016277.5(RAB23):c.*416G>C rs1411578
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606
NM_016277.5(RAB23):c.481+5A>G rs150762175
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077
NM_016277.5(RAB23):c.507C>T (p.Tyr169=) rs1593207365
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461

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