ClinVar Miner

List of variants in gene BCAP31 studied for CADDS

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001256447.2(BCAP31):c.716G>A (p.Gly239Asp) rs1557047235 0.00001
NM_001256447.2(BCAP31):c.-44-270C>A rs1057518721
NM_001256447.2(BCAP31):c.194-2A>G rs879255569
NM_001256447.2(BCAP31):c.317C>T (p.Ala106Val) rs2091621117
NM_001256447.2(BCAP31):c.341+2T>G rs1064794057
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.477+8del
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu) rs782648908
NM_001256447.2(BCAP31):c.709G>C (p.Val237Leu)
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter) rs397515620

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