ClinVar Miner

List of variants in gene EVC2 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
EVC2, 1-BP DEL, 3660C
EVC2, 1-BP INS, 2056C
EVC2, 5-BP INS, NT198
EVC2, IVS5, A-G, -2
NM_001166136.1(EVC2):c.1615C>T (p.Gln539Ter) rs137852925
NM_001166136.1(EVC2):c.608T>G (p.Ile203Arg) rs137852926
NM_147127.4(EVC2):c.1024A>T (p.Lys342Ter) rs767072839
NM_147127.4(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.4(EVC2):c.142_151del10 (p.Asp49Trpfs) rs1221185345
NM_147127.4(EVC2):c.1708C>T (p.Gln570Ter) rs769864196
NM_147127.4(EVC2):c.1713dup (p.Asn572Glufs) rs1553836165
NM_147127.4(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.4(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_147127.4(EVC2):c.2476C>T (p.Arg826Ter) rs548681312
NM_147127.4(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.4(EVC2):c.2653C>T (p.Arg885Ter) rs146538906
NM_147127.4(EVC2):c.2746delA (p.Ser916Alafs) rs886037763
NM_147127.4(EVC2):c.2848C>T (p.Arg950Trp) rs137852928
NM_147127.4(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.4(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.4(EVC2):c.3360+1G>A rs1553815019
NM_147127.4(EVC2):c.3405_3411delCGGGGCC (p.Gly1136Argfs) rs750396637
NM_147127.4(EVC2):c.341C>G (p.Ser114Ter)
NM_147127.4(EVC2):c.3634delCinsGA (p.Leu1212Aspfs) rs1553812417
NM_147127.4(EVC2):c.3659+2T>C rs200300612
NM_147127.4(EVC2):c.3660delC (p.Ser1220Argfs) rs753581033
NM_147127.4(EVC2):c.392dup (p.Pro132Thrfs)
NM_147127.4(EVC2):c.619G>T (p.Asp207Tyr) rs761707323
NM_147127.4(EVC2):c.745C>T (p.Gln249Ter) rs1236566474

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