ClinVar Miner

List of variants in gene BCAP31 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_001256447.2(BCAP31):c.-44-270C>A rs1057518721
NM_001256447.2(BCAP31):c.194-2A>G rs879255569
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs) rs1557047954
NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter) rs1603223001
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter) rs397515620

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