ClinVar Miner

List of variants in gene CPA1 reported as likely benign by Sema4, Sema4

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001868.4(CPA1):c.816G>A (p.Ser272=) rs34843162 0.00217
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp) rs144546424 0.00209
NM_001868.4(CPA1):c.621C>T (p.Thr207=) rs61735158 0.00205
NM_001868.4(CPA1):c.371C>T (p.Thr124Ile) rs150653308 0.00165
NM_001868.4(CPA1):c.867T>C (p.Ile289=) rs115663631 0.00108
NM_001868.4(CPA1):c.281A>G (p.Gln94Arg) rs41274176 0.00068
NM_001868.4(CPA1):c.79C>T (p.Arg27Ter) rs141209213 0.00038
NM_001868.4(CPA1):c.1021G>A (p.Ala341Thr) rs77792157 0.00016
NM_001868.4(CPA1):c.774C>T (p.Asp258=) rs368689434 0.00008
NM_001868.4(CPA1):c.696+6G>A rs1046847986
NM_001868.4(CPA1):c.788-5C>G rs201705049

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