ClinVar Miner

List of variants studied for acrofacial dysostosis, Weyers type by Invitae

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 104
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HGVS dbSNP
NC_000004.11:g.(?_5690874)_(5691080_?)del
NC_000004.11:g.(?_5798729)_(5798979_?)del
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg)
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
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.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1470+3A>T
NM_147127.5(EVC2):c.1554_1556AGA[2] (p.Glu520del) rs772411576
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.1846G>A (p.Ala616Thr) rs201201603
NM_147127.5(EVC2):c.2046+5A>G rs6850875
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter)
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro) rs1270446777
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912
NM_147127.5(EVC2):c.2551A>G (p.Met851Val)
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778
NM_147127.5(EVC2):c.2707-5T>C rs186058156
NM_147127.5(EVC2):c.2830-1G>T
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236
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.3205C>T (p.Gln1069Ter)
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His)
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter)
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3557+10G>A rs116218656
NM_147127.5(EVC2):c.3640del (p.Ala1214fs)
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His)
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.3659+8T>C rs200119306
NM_147127.5(EVC2):c.3762del (p.Val1255fs)
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.450+2T>C rs781096099
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu) rs766533908
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.707-2A>C
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.887G>C (p.Gly296Ala) rs201083070
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138
NM_153717.3(EVC):c.1226G>T (p.Gly409Val)
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801
NM_153717.3(EVC):c.1464+8A>G rs116236414
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.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515
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.2562-2A>G
NM_153717.3(EVC):c.2562-3_2584del
NM_153717.3(EVC):c.2562-4C>G rs60082311
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.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.724dup (p.Met242fs)
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555
NM_153717.3(EVC):c.809A>C (p.Glu270Ala)
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616
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.901_903AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726

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