List of variants in gene EVC reported as benign for hereditary epidermal appendage anomaly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.769C>T (p.Leu257=)	rs6446393	0.95639
NM_153717.3(EVC):c.*2417T>C	rs6848370	0.75819
NM_153717.3(EVC):c.2305-8T>C	rs1031919	0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His)	rs6414624	0.72068
NM_153717.3(EVC):c.2894+18A>G	rs2279250	0.71871
NM_153717.3(EVC):c.939+10A>G	rs2286342	0.67122
NM_153717.3(EVC):c.*14G>A	rs2291151	0.61437
NM_153717.3(EVC):c.802-15C>T	rs4689313	0.60798
NM_153717.3(EVC):c.*931T>C	rs6840435	0.56030
NM_153717.3(EVC):c.939+63C>A	rs13145958	0.55696
NM_153717.3(EVC):c.1098+51A>T	rs4688961	0.52782
NM_153717.3(EVC):c.1026G>C (p.Leu342=)	rs4688962	0.52761
NM_153717.3(EVC):c.*2617G>A	rs3733186	0.41865
NM_153717.3(EVC):c.*2713C>T	rs3733188	0.41663
NM_153717.3(EVC):c.969T>C (p.Asn323=)	rs4688963	0.40746
NM_153717.3(EVC):c.1099-19T>C	rs899691	0.37351
NM_153717.3(EVC):c.939+4C>T	rs2286343	0.33466
NM_153717.3(EVC):c.1563+1771A>G	rs6828631	0.27419
NM_153717.3(EVC):c.1068A>G (p.Leu356=)	rs33929747	0.26691
NM_153717.3(EVC):c.*2268G>A	rs4261923	0.25768
NM_153717.3(EVC):c.939+114G>A	rs28609792	0.21365
NM_153717.3(EVC):c.*1318G>C	rs67547790	0.21091
NM_153717.3(EVC):c.801+240C>T	rs1480169	0.20327
NM_153717.3(EVC):c.1465-47A>C	rs4642178	0.20086
NM_153717.3(EVC):c.301-80G>A	rs2276875	0.17578
NM_153717.3(EVC):c.1563+1897C>T	rs56328334	0.16475
NM_153717.3(EVC):c.*748T>C	rs62297707	0.13967
NM_153717.3(EVC):c.*210C>A	rs16837692	0.13049
NM_153717.3(EVC):c.*1218C>T	rs12501119	0.13032
NM_153717.3(EVC):c.*3165T>C	rs3755847	0.12593
NM_153717.3(EVC):c.*2680G>A	rs3733187	0.12188
NM_153717.3(EVC):c.*2871C>T	rs3733189	0.12083
NM_153717.3(EVC):c.802-15del	rs369153323	0.10885
NM_153717.3(EVC):c.249A>G (p.Ser83=)	rs35870680	0.09998
NM_153717.3(EVC):c.618-121G>A	rs75063475	0.09118
NM_153717.3(EVC):c.384+41C>T	rs113870218	0.08516
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)	rs2291157	0.07908
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)	rs35953626	0.07232
NM_153717.3(EVC):c.*2009T>C	rs79152885	0.06541
NM_153717.3(EVC):c.*53T>C	rs7676531	0.06533
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)	rs28483498	0.06438
NM_153717.3(EVC):c.341C>T (p.Ala114Val)	rs16837598	0.05943
NM_153717.3(EVC):c.*908G>A	rs13119698	0.03897
NM_153717.3(EVC):c.1096C>T (p.Leu366=)	rs6854138	0.03243
NM_153717.3(EVC):c.939+11G>T	rs55955937	0.02788
NM_153717.3(EVC):c.*1060A>C	rs71599848	0.02627
NM_153717.3(EVC):c.*1375A>G	rs114994758	0.02309
NM_153717.3(EVC):c.*1083T>G	rs71599850	0.02002
NM_153717.3(EVC):c.*2277G>C	rs28452978	0.01778
NM_153717.3(EVC):c.*1849C>G	rs75438311	0.01645
NM_153717.3(EVC):c.*615C>T	rs73079505	0.01604
NM_153717.3(EVC):c.*820C>T	rs137860758	0.01565
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)	rs2279252	0.01416
NM_153717.3(EVC):c.*1700C>T	rs74690944	0.01179
NM_153717.3(EVC):c.1464+8A>G	rs116236414	0.01163
NM_153717.3(EVC):c.2373G>A (p.Gln791=)	rs73795089	0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His)	rs73795088	0.01159
NM_153717.3(EVC):c.385-16C>T	rs113571700	0.00995
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)	rs35287723	0.00977
NM_153717.3(EVC):c.2505G>A (p.Ser835=)	rs115976359	0.00969
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)	rs60582583	0.00733
NM_153717.3(EVC):c.780G>A (p.Lys260=)	rs41269555	0.00676
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)	rs41269547	0.00561
NM_153717.3(EVC):c.*2132A>G	rs11939264	0.00524
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)	rs146729456	0.00451
NM_153717.3(EVC):c.*2708G>A	rs79112570	0.00424
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)	rs111293777	0.00354
NM_153717.3(EVC):c.*2285C>G	rs145479436	0.00352
NM_153717.3(EVC):c.*1185A>G	rs113728951	0.00308
NM_153717.3(EVC):c.939+9C>T	rs201282320	0.00205
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)	rs141859946	0.00188
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)	rs115275195	0.00171
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)	rs116952023	0.00150
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)	rs886044558	0.00121
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)	rs143678893	0.00093
NM_153717.3(EVC):c.1770C>T (p.Asp590=)	rs141755737	0.00079
NM_153717.3(EVC):c.2322G>C (p.Ala774=)	rs150373930	0.00067
NM_153717.3(EVC):c.175-18C>G	rs114621329	0.00047
NM_153717.3(EVC):c.1995G>A (p.Ser665=)	rs142897994	0.00038
NM_153717.3(EVC):c.2241G>A (p.Ala747=)	rs142094016	0.00014
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr)	rs748268896	0.00014
NM_153717.3(EVC):c.940-12C>G	rs200707006	0.00014
NM_153717.3(EVC):c.2298C>T (p.Asp766=)	rs140546984	0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)	rs150284356	0.00011
NM_153717.3(EVC):c.1564-6C>T	rs188245524	0.00008
NM_153717.3(EVC):c.*2466G>A	rs572400824	0.00006
NM_153717.3(EVC):c.*1648T>C	rs371788560	0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=)	rs551881521	0.00004
NM_153717.3(EVC):c.771A>G (p.Leu257=)	rs756340487	0.00003
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)	rs373718642	0.00002
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)	rs571637567	0.00001
NM_153717.3(EVC):c.*1845del	rs397690241
NM_153717.3(EVC):c.1099-167G>C	rs6810769
NM_153717.3(EVC):c.1099-208C>T	rs6812234
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)	rs2302075
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
NM_153717.3(EVC):c.1563+185A>G	rs12499655
NM_153717.3(EVC):c.162C>T (p.Arg54=)	rs1305323625
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)	rs1383180
NM_153717.3(EVC):c.1777-6G>A	rs565093715
NM_153717.3(EVC):c.1854C>T (p.Gly618=)	rs11737221
NM_153717.3(EVC):c.2449+15del	rs398092136
NM_153717.3(EVC):c.2449+15dup	rs398092136
NM_153717.3(EVC):c.2449+16del
NM_153717.3(EVC):c.2562-3del
NM_153717.3(EVC):c.2562-4C>G	rs60082311
NM_153717.3(EVC):c.2895-10_2895-9del	rs371125826
NM_153717.3(EVC):c.2895-16_2895-13del	rs773917688
NM_153717.3(EVC):c.612C>T (p.Cys204=)	rs553634958
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
NM_153717.3(EVC):c.802-12_802-11del	rs372546602
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)

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