ClinVar Miner

List of variants reported as benign for Ellis-van Creveld syndrome; Curry-Hall syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.1146-5C>G rs746188195
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795
NM_147127.5(EVC2):c.1471-6C>T rs115466792
NM_147127.5(EVC2):c.1471-7T>C rs150842594
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-20_1711-19dup rs35103377
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165
NM_147127.5(EVC2):c.2046+5A>G rs6850875
NM_147127.5(EVC2):c.2047-9A>T rs73198154
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974
NM_147127.5(EVC2):c.2707-5T>C rs186058156
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514
NM_147127.5(EVC2):c.3557+10G>A rs116218656
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157
NM_147127.5(EVC2):c.3659+8T>C rs200119306
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753
NM_147127.5(EVC2):c.707-4G>A rs113806963
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642
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.1333A>C (p.Lys445Gln) rs116952023
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567
NM_153717.3(EVC):c.1464+8A>G rs116236414
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.939+9C>T rs201282320

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.