ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP
NM_147127.5(EVC2):c.1711-20_1711-19dup rs35103377
NM_147127.5(EVC2):c.2046+5A>G rs6850875
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236
NM_147127.5(EVC2):c.3557+10G>A rs116218656
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598

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