ClinVar Miner

List of variants reported as pathogenic for acrofacial dysostosis, Weyers type by Invitae

Included ClinVar conditions (2):
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Total variants: 20
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NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter)
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs)
NM_147127.5(EVC2):c.3762del (p.Val1255fs)
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.3(EVC):c.724dup (p.Met242fs)
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616

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