ClinVar Miner

List of variants in gene PC reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) rs116518022 0.00051
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr) rs138760063 0.00019
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332 0.00019
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) rs139540331 0.00016
NM_001040716.2(PC):c.190G>A (p.Val64Ile) rs35698729 0.00014
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494 0.00014
NM_001040716.2(PC):c.1640G>A (p.Arg547Gln) rs142036463 0.00011
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr) rs139795235 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698 0.00011
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser) rs200676705 0.00004
NM_001040716.2(PC):c.2489G>A (p.Arg830His) rs773519800 0.00004
NM_001040716.2(PC):c.895G>A (p.Ala299Thr) rs761643820 0.00004
NM_001040716.2(PC):c.1297G>A (p.Gly433Ser) rs908978048 0.00003
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252 0.00003
NM_001040716.2(PC):c.1354G>A (p.Val452Ile) rs779387492 0.00002
NM_001040716.2(PC):c.1718C>G (p.Ala573Gly) rs1372423236 0.00002
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met) rs145046106 0.00002
NM_001040716.2(PC):c.3242A>G (p.Asn1081Ser) rs745626388 0.00002
NM_001040716.2(PC):c.3409C>G (p.Leu1137Val) rs777927070 0.00002
NM_001040716.2(PC):c.1082G>T (p.Gly361Val) rs377766602 0.00001
NM_001040716.2(PC):c.1292C>G (p.Ala431Gly) rs796052031 0.00001
NM_001040716.2(PC):c.1471C>T (p.Arg491Trp) rs1190212614 0.00001
NM_001040716.2(PC):c.1613C>T (p.Pro538Leu) rs151174961 0.00001
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg) rs746060650 0.00001
NM_001040716.2(PC):c.2167T>C (p.Tyr723His) rs1366191657 0.00001
NM_001040716.2(PC):c.2754C>T (p.Ala918=) rs534275006 0.00001
NM_001040716.2(PC):c.3429G>T (p.Met1143Ile) rs1057520117 0.00001
NM_001040716.2(PC):c.920C>T (p.Ala307Val) rs1247838963 0.00001
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn) rs780215837
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.118G>C (p.Val40Leu) rs2135943669
NM_001040716.2(PC):c.1217G>A (p.Arg406His)
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp) rs947957837
NM_001040716.2(PC):c.1517A>C (p.His506Pro) rs1565216103
NM_001040716.2(PC):c.1582G>A (p.Val528Ile)
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)
NM_001040716.2(PC):c.2231C>T (p.Ala744Val) rs1565212112
NM_001040716.2(PC):c.2549G>A (p.Cys850Tyr)
NM_001040716.2(PC):c.2949_2952dup (p.Leu985fs) rs1565209022
NM_001040716.2(PC):c.3061A>G (p.Lys1021Glu)
NM_001040716.2(PC):c.3067T>C (p.Phe1023Leu)
NM_001040716.2(PC):c.3283A>G (p.Met1095Val)
NM_001040716.2(PC):c.3328G>A (p.Gly1110Ser)
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.913G>A (p.Glu305Lys)
NM_001040716.2(PC):c.982C>G (p.Arg328Gly)
NM_001040716.2(PC):c.98A>T (p.Glu33Val) rs1555027633

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