ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 25
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HGVS dbSNP
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg)
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1470+3A>T
NM_147127.5(EVC2):c.1554_1556AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2551A>G (p.Met851Val)
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His)
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His)
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1226G>T (p.Gly409Val)
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
NM_153717.3(EVC):c.1603G>A (p.Val535Met)
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.809A>C (p.Glu270Ala)
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726

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