ClinVar Miner

List of variants in gene combination EDAR, RANBP2 studied for not provided

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Gene type:
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.655+30T>C rs260630 0.90817
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_022336.4(EDAR):c.*42G>T rs7607563 0.86887
NM_022336.4(EDAR):c.442+171T>C rs260643 0.84807
NM_022336.4(EDAR):c.964-214C>A rs260638 0.79844
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_022336.4(EDAR):c.1024+44C>T rs260639 0.71201
NM_022336.4(EDAR):c.1025-101T>A rs3789738 0.69233
NM_022336.4(EDAR):c.731-99C>T rs260631 0.69088
NM_022336.3(EDAR):c.-370C>T rs3749110 0.26084
NM_022336.4(EDAR):c.357-127G>C rs748224 0.19808
NM_022336.4(EDAR):c.442+170A>G rs2077536 0.17652
NM_022336.4(EDAR):c.442+50C>T rs3749107 0.09845
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_022336.4(EDAR):c.804-102C>T rs57906068 0.04515
NM_022336.4(EDAR):c.52-135C>T rs78231164 0.04417
NM_022336.4(EDAR):c.175-133C>G rs28393619 0.02705
NM_022336.4(EDAR):c.175-237G>A rs28731021 0.02530
NM_022336.4(EDAR):c.804-214T>C rs76244665 0.02389
NM_022336.4(EDAR):c.1024+147T>C rs17037091 0.02204
NM_022336.4(EDAR):c.1024+68C>A rs78790506 0.02147
NM_022336.4(EDAR):c.656-37G>A rs114808659 0.02105
NM_022336.4(EDAR):c.-18-109C>T rs76090664 0.01425
NM_022336.4(EDAR):c.174+48T>C rs61761319 0.00546
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_022336.4(EDAR):c.813T>C (p.Asp271=) rs3749098 0.00390
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_022336.4(EDAR):c.43G>A (p.Val15Ile) rs151195196 0.00254
NM_022336.4(EDAR):c.174+21G>T rs201959695 0.00103
NM_022336.4(EDAR):c.243A>G (p.Lys81=) rs145518416 0.00043
NM_022336.4(EDAR):c.726C>T (p.Ala242=) rs145268306 0.00028
NM_022336.4(EDAR):c.607G>A (p.Val203Ile) rs148212997 0.00024
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu) rs748806220 0.00006
NM_022336.4(EDAR):c.442+1G>A rs368841777 0.00004
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr) rs370972367 0.00004
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) rs747806672 0.00002
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter) rs199544410 0.00002
NM_022336.4(EDAR):c.1006G>A (p.Val336Met) rs1300767499 0.00001
NM_022336.4(EDAR):c.212G>A (p.Cys71Tyr) rs777022647 0.00001
NM_022336.4(EDAR):c.1004del (p.Asn335fs) rs2105390143
NM_022336.4(EDAR):c.1024+16del rs3833574
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter) rs121908452
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln) rs886039564
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter) rs886039348
NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr) rs917638291
NM_022336.4(EDAR):c.1202T>C (p.Ile401Thr)
NM_022336.4(EDAR):c.1229A>G (p.Glu410Gly) rs1064793107
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.126del (p.Leu43fs) rs765519281
NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp) rs886041005
NM_022336.4(EDAR):c.175-238C>G rs28620407
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) rs1574385383
NM_022336.4(EDAR):c.330C>T (p.Asp110=)
NM_022336.4(EDAR):c.408C>A (p.Tyr136Ter)
NM_022336.4(EDAR):c.443-199dup rs373117728
NM_022336.4(EDAR):c.529+1G>T rs1553445945
NM_022336.4(EDAR):c.731-62T>C rs535840595
NM_022336.4(EDAR):c.804-266A>C rs260635
NM_022336.4(EDAR):c.804-42C>A rs142724949
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056
NM_022336.4(EDAR):c.852C>T (p.Val284=)
NM_022336.4(EDAR):c.883_889delinsTGATGAGGAGCCCG (p.Gln295_Ser297delinsTer) rs1064793684
NM_022336.4(EDAR):c.94G>A (p.Gly32Ser) rs201793571
NM_022336.4(EDAR):c.963+210del rs11306434
NM_022336.4(EDAR):c.964-1G>C rs2105390253

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