ClinVar Miner

List of variants in gene BCAP31 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met) rs111450526 0.00141
NM_001256447.2(BCAP31):c.-27T>G rs1603230657
NM_001256447.2(BCAP31):c.41C>G (p.Ala14Gly)
NM_001256447.2(BCAP31):c.548G>T (p.Ser183Ile) rs2091528981
NM_001256447.2(BCAP31):c.676T>G (p.Leu226Val)
NM_001256447.2(BCAP31):c.733_736del (p.Glu245fs) rs1603221175

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