List of variants in gene EVC2 reported as uncertain significance for acrofacial dysostosis

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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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	rs370769794
NM_147127.5(EVC2):c.1554_1556AGA[2] (p.Glu520del)	rs772411576
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys)
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr)	rs201201603
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)	rs144420242
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys)	rs375693723
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp)	rs776830520
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro)	rs1270446777
NM_147127.5(EVC2):c.2551A>G (p.Met851Val)
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)	rs145425340
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His)
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His)	rs139577475
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu)	rs766533908
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg)
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu)	rs138882677

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