ClinVar Miner

List of variants in gene EVC reported as likely pathogenic by Counsyl

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_153717.2(EVC):c.2782+1delG rs1169539647
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.1564-2A>G rs1553886849
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1777-1G>A rs1262933856
NM_153717.3(EVC):c.1777-2A>G rs909612975
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2098-1G>A rs773019082
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2782+1G>T rs1007534611
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.702+1G>A rs1553867138
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426
NM_153717.3(EVC):c.939+1G>C rs1553873138

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