ClinVar Miner

List of variants in gene PCCB reported as likely benign for not provided

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
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_000532.5(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.373-1292C>T rs117604575 0.00188
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
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.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.429+7G>A rs201986472 0.00073
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
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.654+3A>C rs199886085 0.00014
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.1371C>T (p.Thr457=) rs140630332 0.00004
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514 0.00002
NM_000532.5(PCCB):c.945C>T (p.Asn315=) rs766185451 0.00002
NM_000532.5(PCCB):c.884+14C>T rs372020160 0.00001
NM_000532.5(PCCB):c.1090+163_1090+178del rs397694948
NM_000532.5(PCCB):c.1090+173_1090+178dup rs397694948
NM_000532.5(PCCB):c.1398+177T>G rs113068452
NM_000532.5(PCCB):c.48T>C (p.Val16=) rs1576397531

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