ClinVar Miner

List of variants in gene PCCA reported as likely benign for not specified

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_000282.4(PCCA):c.-14C>T rs113438150 0.00232
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487 0.00201
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_000282.4(PCCA):c.-20G>A rs374941593 0.00021
NM_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957 0.00013
NM_000282.4(PCCA):c.468+11A>C rs187554010 0.00010
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181 0.00004
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442 0.00004
NM_000282.4(PCCA):c.1285-4C>T rs372262089 0.00002
NM_000282.4(PCCA):c.1285-15C>T rs779554504 0.00001
NM_000282.4(PCCA):c.1285-7C>T rs748531448
NM_000282.4(PCCA):c.1430-18A>T rs770776146
NM_000282.4(PCCA):c.1541-12_1541-9del rs763530693
NM_000282.4(PCCA):c.1541-19del rs773809966
NM_000282.4(PCCA):c.1541-37TGAT[3] rs748498827
NM_000282.4(PCCA):c.414+15A>G rs1016791209
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.637+18C>T rs758676556
NM_000282.4(PCCA):c.720T>C (p.Asp240=)

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