ClinVar Miner

List of variants in gene PCCB studied for not provided

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Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.1498+278A>G rs483465 0.75970
NM_000532.4(PCCB):c.-390G>C rs3755636 0.75389
NM_000532.5(PCCB):c.1090+320A>G rs1291921 0.72973
NM_000532.5(PCCB):c.967-46A>G rs9833162 0.36992
NM_000532.5(PCCB):c.764-316A>G rs56336182 0.17162
NM_000532.5(PCCB):c.654+20T>C rs3821445 0.15527
NM_000532.5(PCCB):c.373-1009G>A rs76931214 0.02335
NM_000532.5(PCCB):c.1398+238C>T rs78209731 0.01783
NM_000532.5(PCCB):c.763+244A>G rs76321585 0.01769
NC_000003.12:g.136250221C>T rs114666363 0.01424
NM_000532.5(PCCB):c.764-135T>C rs114618677 0.01338
NM_000532.5(PCCB):c.183+201T>C rs77598352 0.01298
NM_000532.5(PCCB):c.884+241G>T rs113471858 0.01278
NM_000532.5(PCCB):c.655-205T>C rs112185482 0.01277
NM_000532.5(PCCB):c.183+55T>A rs139744249 0.01246
NC_000003.12:g.136250236C>G rs16843806 0.01211
NM_000532.5(PCCB):c.1090+294A>G rs138853479 0.01192
NM_000532.5(PCCB):c.184-87C>T rs2305265 0.01181
NM_000532.5(PCCB):c.429+307C>T rs117164248 0.01178
NM_000532.5(PCCB):c.966+205G>A rs3732521 0.01155
NM_000532.5(PCCB):c.1399-218G>T rs113081595 0.01152
NM_000532.5(PCCB):c.373-173G>A rs116077473 0.00850
NM_000532.5(PCCB):c.373-1417A>G rs78787340 0.00841
NM_000532.5(PCCB):c.884+261G>C rs563215120 0.00778
NM_000532.5(PCCB):c.304-147T>A rs113593719 0.00748
NM_000532.5(PCCB):c.884+281G>A rs150202940 0.00698
NM_000532.5(PCCB):c.543+47C>T rs116752930 0.00607
NM_000532.4(PCCB):c.-37C>T rs145734157 0.00591
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_000532.5(PCCB):c.372+31T>C rs16843829 0.00526
NM_000532.5(PCCB):c.884+116G>A rs147067564 0.00449
NM_000532.5(PCCB):c.544-185A>G rs113283780 0.00429
NM_000532.5(PCCB):c.654+29C>T rs145089027 0.00326
NM_000532.5(PCCB):c.1499-48A>G rs144001285 0.00234
NM_000532.5(PCCB):c.*44C>T rs201452852 0.00197
NM_000532.5(PCCB):c.373-1292C>T rs117604575 0.00188
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_000532.5(PCCB):c.1299+9C>A rs60968242 0.00137
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817 0.00126
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201 0.00076
NM_000532.5(PCCB):c.429+7G>A rs201986472 0.00073
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser) rs144907014 0.00040
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_000532.5(PCCB):c.373-1229T>C rs7642585 0.00028
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_000532.5(PCCB):c.303+8T>A rs199769617 0.00021
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823 0.00016
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000532.5(PCCB):c.250A>G (p.Met84Val) rs201950515 0.00012
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_000532.5(PCCB):c.1299+13T>C rs185352554 0.00010
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566 0.00009
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996 0.00006
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332 0.00004
NM_000532.5(PCCB):c.183+17C>T rs776965589 0.00004
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_000532.5(PCCB):c.372+15C>T rs370726053 0.00003
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp) rs373189621 0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997 0.00003
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704 0.00003
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514 0.00002
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln) rs375014273 0.00002
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615 0.00002
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000532.5(PCCB):c.945C>T (p.Asn315=) rs766185451 0.00002
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser) rs747309318 0.00001
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile) rs796052026 0.00001
NM_000532.5(PCCB):c.1399-2_1399-1del rs1317123493 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464 0.00001
NM_000532.5(PCCB):c.704C>T (p.Thr235Ile) rs1410754943 0.00001
NM_000532.5(PCCB):c.764-2del rs796052022 0.00001
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser) rs749071200 0.00001
NM_000532.5(PCCB):c.884+14C>T rs372020160 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000532.5(PCCB):c.*128_*132del rs886058021
NM_000532.5(PCCB):c.1027G>C (p.Gly343Arg) rs765394399
NM_000532.5(PCCB):c.1076C>T (p.Pro359Leu)
NM_000532.5(PCCB):c.1090+163_1090+178del rs397694948
NM_000532.5(PCCB):c.1090+172_1090+178del rs397694948
NM_000532.5(PCCB):c.1090+173_1090+178dup rs397694948
NM_000532.5(PCCB):c.1090+174_1090+178dup rs397694948
NM_000532.5(PCCB):c.1090+175_1090+178dup rs397694948
NM_000532.5(PCCB):c.1090+178dup rs397694948
NM_000532.5(PCCB):c.1100A>G (p.Asp367Gly)
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile) rs201880353
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1250A>G (p.Tyr417Cys) rs768882976
NM_000532.5(PCCB):c.1262A>G (p.Glu421Gly) rs1560033862
NM_000532.5(PCCB):c.1276A>C (p.Lys426Gln)
NM_000532.5(PCCB):c.1280T>G (p.Val427Gly)
NM_000532.5(PCCB):c.1355A>C (p.Asn452Thr) rs746240889
NM_000532.5(PCCB):c.1398+177T>G rs113068452
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1544T>G (p.Ile515Ser)
NM_000532.5(PCCB):c.155_183+17del rs1941483558
NM_000532.5(PCCB):c.1589C>T (p.Pro530Leu)
NM_000532.5(PCCB):c.173A>C (p.Gln58Pro)
NM_000532.5(PCCB):c.183+1G>A rs398123460
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.220C>A (p.Leu74Met)
NM_000532.5(PCCB):c.2T>A (p.Met1Lys) rs398123462
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.39G>T (p.Arg13Ser)
NM_000532.5(PCCB):c.419_430dup (p.Lys140_Lys143dup) rs797044729
NM_000532.5(PCCB):c.430-121C>G rs2290131
NM_000532.5(PCCB):c.48T>C (p.Val16=) rs1576397531
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
NM_000532.5(PCCB):c.579T>G (p.Ile193Met) rs2108181900
NM_000532.5(PCCB):c.605G>C (p.Gly202Ala)
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) rs779033674
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
NM_000532.5(PCCB):c.654+369_654+370insGA rs59010681
NM_000532.5(PCCB):c.654+370_654+371insGTTTCA rs67922183
NM_000532.5(PCCB):c.654+405A>C rs16843879
NM_000532.5(PCCB):c.748C>A (p.His250Asn)
NM_000532.5(PCCB):c.862G>A (p.Val288Ile) rs201984177
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn) rs183013046
NM_000532.5(PCCB):c.895G>T (p.Val299Phe) rs794727960
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del) rs796052023
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983

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