ClinVar Miner

List of variants in gene CPA1 reported as benign by Ambry Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001868.4(CPA1):c.474C>T (p.Tyr158=) rs968404 0.13541
NM_001868.4(CPA1):c.622G>A (p.Ala208Thr) rs34474469 0.02091
NM_001868.4(CPA1):c.321C>T (p.Phe107=) rs116214014 0.00316
NM_001868.4(CPA1):c.5G>A (p.Arg2Gln) rs145988366 0.00030
NM_001868.4(CPA1):c.1021G>A (p.Ala341Thr) rs77792157 0.00016
NM_001868.4(CPA1):c.165G>C (p.Gly55=) rs1126899
NM_001868.4(CPA1):c.600C>T (p.Tyr200=) rs12706927

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