ClinVar Miner

List of variants in gene PCCB reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) rs764697873 0.00001
NM_000532.5(PCCB):c.177C>G (p.His59Gln) rs757134877 0.00001
NM_000532.5(PCCB):c.544-2A>G rs752377212 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp) rs778242891 0.00001
NC_000003.11:g.(?_135980784)_(135980917_?)del
NC_000003.11:g.(?_136002659)_(136002809_?)del
NM_000532.5(PCCB):c.1090+2T>C rs1553782779
NM_000532.5(PCCB):c.1091-1G>A rs2108237784
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg) rs753037539
NM_000532.5(PCCB):c.1198+1G>A rs1935333494
NM_000532.5(PCCB):c.1288_1299+5del rs1250541852
NM_000532.5(PCCB):c.1300-1G>A
NM_000532.5(PCCB):c.1300-1G>C
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
NM_000532.5(PCCB):c.1395_1398+8del
NM_000532.5(PCCB):c.1398+2del rs2108239135
NM_000532.5(PCCB):c.155_183+17del rs1941483558
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
NM_000532.5(PCCB):c.183+1G>A rs398123460
NM_000532.5(PCCB):c.183+1G>C
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.303+1G>T rs1941662983
NM_000532.5(PCCB):c.304-1G>A
NM_000532.5(PCCB):c.304-2A>G
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser) rs1941676220
NM_000532.5(PCCB):c.372+1G>A
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.373-1G>C rs2108144374
NM_000532.5(PCCB):c.429+1G>A rs1317017233
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly) rs879253815
NM_000532.5(PCCB):c.543+1G>A rs2108146835
NM_000532.5(PCCB):c.543+1G>C
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg) rs2108182082
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) rs1052979420
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000532.5(PCCB):c.77_183+30delinsCC
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg) rs780837200

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