ClinVar Miner

List of variants in gene EVC2 studied for acrofacial dysostosis, Weyers type

Included ClinVar conditions (2):
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Total variants: 42
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HGVS dbSNP
NC_000004.11:g.(?_5690874)_(5691080_?)del
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg)
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1470+3A>T rs370769794
NM_147127.5(EVC2):c.1554_1556AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1711-20_1711-19dup rs35103377
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603
NM_147127.5(EVC2):c.2046+5A>G rs6850875
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2551A>G (p.Met851Val)
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.5(EVC2):c.2830-1G>T
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter)
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His)
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3557+10G>A rs116218656
NM_147127.5(EVC2):c.3640del (p.Ala1214fs)
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His) rs139577475
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.3762del (p.Val1255fs)
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter)
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter)
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.450+2T>C rs781096099
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908
NM_147127.5(EVC2):c.707-2A>C

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