ClinVar Miner

List of variants in gene PC studied for not provided

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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.1022+154C>A rs45625436 0.04358
NM_001040716.2(PC):c.2224-9T>G rs45560936 0.03311
NM_001040716.2(PC):c.903+298T>G rs117910719 0.01537
NM_001040716.2(PC):c.1-237C>A rs142296495 0.01427
NM_001040716.2(PC):c.1-245G>C rs116480910 0.01387
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036 0.01323
NM_001040716.2(PC):c.1825+22C>T rs45620032 0.01202
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745 0.01182
NM_001040716.2(PC):c.1185+172G>A rs116177198 0.01092
NM_001040716.2(PC):c.752-153C>T rs114092976 0.00981
NM_001040716.2(PC):c.1368+142T>C rs7114229 0.00978
NM_001040716.2(PC):c.1022+283G>A rs6591224 0.00977
NM_001040716.2(PC):c.1023-231A>G rs114433027 0.00977
NM_001040716.2(PC):c.1368+294G>A rs112362874 0.00973
NM_001040716.2(PC):c.1185+111G>A rs45549542 0.00972
NM_001040716.2(PC):c.1023-33C>T rs116706384 0.00971
NM_001040716.2(PC):c.1983-92A>T rs115582831 0.00912
NM_001040716.2(PC):c.1983-91G>T rs75171422 0.00911
NM_001040716.2(PC):c.1514-51G>A rs141970908 0.00425
NM_001040716.2(PC):c.1023-57C>T rs45589939 0.00392
NM_001040716.2(PC):c.*13C>T rs58032722 0.00173
NM_001040716.2(PC):c.951C>T (p.His317=) rs142309583 0.00147
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001040716.2(PC):c.*89G>A rs186152567 0.00123
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
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.3258C>G (p.Ser1086=) rs138238125 0.00039
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445 0.00031
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_001040716.2(PC):c.2325G>A (p.Thr775=) rs371093155 0.00026
NM_001040716.2(PC):c.2748C>T (p.Asp916=) rs149689543 0.00025
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001040716.2(PC):c.1683G>A (p.Pro561=) rs113071273 0.00019
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.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) rs139540331 0.00016
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109 0.00015
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.1575G>A (p.Thr525=) rs143833575 0.00013
NM_001040716.2(PC):c.843C>T (p.Ala281=) rs150040684 0.00012
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.322-10C>T rs371834866 0.00007
NM_001040716.2(PC):c.918C>T (p.Asn306=) rs372125858 0.00007
NM_001040716.2(PC):c.1512C>T (p.Leu504=) rs763298490 0.00006
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001040716.2(PC):c.2469C>T (p.Asp823=) rs145654496 0.00005
NM_001040716.2(PC):c.3171G>A (p.Thr1057=) rs147550265 0.00005
NM_001040716.2(PC):c.3192C>T (p.Ala1064=) rs751541124 0.00005
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.879C>T (p.Ser293=) rs183131461 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.2076G>A (p.Ala692=) rs753064456 0.00003
NM_001040716.2(PC):c.2124C>T (p.Gly708=) rs200488501 0.00003
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252 0.00003
NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn) rs568925019 0.00003
NM_001040716.2(PC):c.752-5C>T rs770994083 0.00003
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_001040716.2(PC):c.1353C>T (p.Arg451=) rs542353629 0.00002
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.2127C>T (p.Asp709=) rs768324552 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.1043del (p.Gln348fs) rs1064796030 0.00001
NM_001040716.2(PC):c.1082G>T (p.Gly361Val) rs377766602 0.00001
NM_001040716.2(PC):c.1267G>A (p.Asp423Asn) rs1057524862 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.2292C>T (p.Pro764=) rs757918962 0.00001
NM_001040716.2(PC):c.2706C>T (p.Gly902=) rs73489729 0.00001
NM_001040716.2(PC):c.2754C>T (p.Ala918=) rs534275006 0.00001
NM_001040716.2(PC):c.3234T>C (p.Phe1078=) rs531640812 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.-228+18T>C rs1301376384
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn) rs780215837
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
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.1314G>A (p.Thr438=) rs199877852
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp) rs947957837
NM_001040716.2(PC):c.1513+28CCTCC[2] rs373326379
NM_001040716.2(PC):c.1517A>C (p.His506Pro) rs1565216103
NM_001040716.2(PC):c.1582G>A (p.Val528Ile)
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) rs796052029
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2231C>T (p.Ala744Val) rs1565212112
NM_001040716.2(PC):c.2549G>A (p.Cys850Tyr)
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
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.3147+45dup rs368127649
NM_001040716.2(PC):c.3283A>G (p.Met1095Val)
NM_001040716.2(PC):c.3288+16G>C rs1591110269
NM_001040716.2(PC):c.3288+4T>C
NM_001040716.2(PC):c.3328G>A (p.Gly1110Ser)
NM_001040716.2(PC):c.3531C>T (p.Ile1177=) rs144982348
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
NM_001040716.2(PC):c.585G>T (p.Ala195=) rs375925670
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.797C>A (p.Ser266Tyr) rs796052030
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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