ClinVar Miner

List of variants in gene TYR reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1067A>T (p.Asp356Val) rs180801021 0.00037
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000372.5(TYR):c.1184+4G>A rs117410990 0.00013
NM_000372.5(TYR):c.842A>G (p.Glu281Gly) rs146036358 0.00012
NM_000372.5(TYR):c.690C>A (p.Asn230Lys) rs150207593 0.00009
NM_000372.5(TYR):c.892C>T (p.Arg298Trp) rs200854796 0.00006
NM_000372.5(TYR):c.893G>A (p.Arg298Gln) rs148815276 0.00006
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000372.5(TYR):c.470G>A (p.Gly157Asp) rs372458096 0.00005
NM_000372.5(TYR):c.886C>T (p.Pro296Ser) rs752062836 0.00005
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000372.5(TYR):c.1307G>C (p.Gly436Ala) rs199717334 0.00003
NM_000372.5(TYR):c.247G>A (p.Val83Ile) rs149684917 0.00003
NM_000372.5(TYR):c.262A>T (p.Thr88Ser) rs780573341 0.00003
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00003
NM_000372.5(TYR):c.721G>A (p.Ala241Thr) rs538081629 0.00003
NM_000372.5(TYR):c.833G>A (p.Arg278Gln) rs753384336 0.00003
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372 0.00003
NM_000372.5(TYR):c.1046G>C (p.Ser349Thr) rs1010038586 0.00002
NM_000372.5(TYR):c.112C>A (p.Pro38Thr) rs61759520 0.00002
NM_000372.5(TYR):c.1213C>T (p.Arg405Cys) rs746811736 0.00002
NM_000372.5(TYR):c.1291C>A (p.Pro431Thr) rs368604842 0.00002
NM_000372.5(TYR):c.1348A>T (p.Ser450Cys) rs371687306 0.00002
NM_000372.5(TYR):c.185A>G (p.Asn62Ser) rs769907583 0.00002
NM_000372.5(TYR):c.389A>T (p.Glu130Val) rs966882228 0.00002
NM_000372.5(TYR):c.415A>T (p.Thr139Ser) rs751055463 0.00002
NM_000372.5(TYR):c.493C>A (p.Pro165Thr) rs760149792 0.00002
NM_000372.5(TYR):c.1061T>C (p.Ile354Thr) rs763127567 0.00001
NM_000372.5(TYR):c.1121T>C (p.Met374Thr) rs769024531 0.00001
NM_000372.5(TYR):c.1185T>C (p.Ser395=) rs763863353 0.00001
NM_000372.5(TYR):c.119G>A (p.Ser40Asn) rs763195455 0.00001
NM_000372.5(TYR):c.11C>T (p.Ala4Val) rs1254138989 0.00001
NM_000372.5(TYR):c.1223A>T (p.Gln408Leu) rs1944761913 0.00001
NM_000372.5(TYR):c.1276A>G (p.Met426Val) rs778017680 0.00001
NM_000372.5(TYR):c.1277T>C (p.Met426Thr) rs1362285246 0.00001
NM_000372.5(TYR):c.1306G>T (p.Gly436Cys) rs1287652457 0.00001
NM_000372.5(TYR):c.1327A>G (p.Lys443Glu) rs1180758324 0.00001
NM_000372.5(TYR):c.1343A>G (p.Asp448Gly) rs753195354 0.00001
NM_000372.5(TYR):c.1357C>A (p.Gln453Lys) rs62645924 0.00001
NM_000372.5(TYR):c.1366+3A>T rs1254666353 0.00001
NM_000372.5(TYR):c.194T>C (p.Leu65Pro) rs886048745 0.00001
NM_000372.5(TYR):c.23G>A (p.Cys8Tyr) rs922323302 0.00001
NM_000372.5(TYR):c.26T>C (p.Leu9Pro) rs1238837002 0.00001
NM_000372.5(TYR):c.282C>A (p.Asn94Lys) rs200951928 0.00001
NM_000372.5(TYR):c.316G>C (p.Gly106Arg) rs759163678 0.00001
NM_000372.5(TYR):c.333C>G (p.Asn111Lys) rs1428763809 0.00001
NM_000372.5(TYR):c.398A>C (p.Lys133Thr) rs1235125199 0.00001
NM_000372.5(TYR):c.433A>G (p.Ile145Val) rs758570611 0.00001
NM_000372.5(TYR):c.446A>C (p.Tyr149Ser) rs797046082 0.00001
NM_000372.5(TYR):c.461G>A (p.Gly154Glu) rs200471520 0.00001
NM_000372.5(TYR):c.464C>T (p.Thr155Ile) rs920624553 0.00001
NM_000372.5(TYR):c.530T>C (p.Val177Ala) rs571810545 0.00001
NM_000372.5(TYR):c.65G>C (p.Arg22Thr) rs781056780 0.00001
NM_000372.5(TYR):c.67G>A (p.Ala23Thr) rs1373014646 0.00001
NM_000372.5(TYR):c.682G>A (p.Asp228Asn) rs767644694 0.00001
NM_000372.5(TYR):c.754A>G (p.Met252Val) rs201920649 0.00001
NM_000372.5(TYR):c.760G>A (p.Gly254Ser) rs199500520 0.00001
NM_000372.5(TYR):c.913G>A (p.Asp305Asn) rs139893504 0.00001
NM_000372.5(TYR):c.933G>T (p.Arg311Ser) rs1488387051 0.00001
NM_000372.5(TYR):c.967A>C (p.Ser323Arg) rs1943442931 0.00001
NM_000372.5(TYR):c.1016G>T (p.Ser339Ile) rs2496553063
NM_000372.5(TYR):c.1027A>G (p.Thr343Ala) rs1172024364
NM_000372.5(TYR):c.1028C>T (p.Thr343Ile) rs1211293645
NM_000372.5(TYR):c.1037-3C>T rs779929859
NM_000372.5(TYR):c.1042G>T (p.Ala348Ser) rs1249646957
NM_000372.5(TYR):c.1049C>T (p.Pro350Leu)
NM_000372.5(TYR):c.1085T>A (p.Met362Lys) rs2135281854
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.110C>G (p.Pro37Arg) rs2496527845
NM_000372.5(TYR):c.1129G>T (p.Val377Leu) rs1394026490
NM_000372.5(TYR):c.112C>G (p.Pro38Ala) rs61759520
NM_000372.5(TYR):c.1130T>C (p.Val377Ala) rs2496618758
NM_000372.5(TYR):c.1139C>T (p.Ser380Phe) rs2135281916
NM_000372.5(TYR):c.113C>T (p.Pro38Leu) rs759624945
NM_000372.5(TYR):c.1171G>A (p.Ala391Thr) rs2135281969
NM_000372.5(TYR):c.1259A>G (p.His420Arg) rs2135324283
NM_000372.5(TYR):c.1263C>A (p.Asn421Lys) rs2135324287
NM_000372.5(TYR):c.1297T>C (p.Tyr433His) rs2135324344
NM_000372.5(TYR):c.1319T>C (p.Ile440Thr) rs762831445
NM_000372.5(TYR):c.1324T>C (p.Ser442Pro) rs1437889928
NM_000372.5(TYR):c.133C>T (p.Pro45Ser) rs13312739
NM_000372.5(TYR):c.1340A>G (p.Tyr447Cys) rs2496712100
NM_000372.5(TYR):c.139G>C (p.Gly47Arg)
NM_000372.5(TYR):c.155G>C (p.Arg52Thr) rs61753182
NM_000372.5(TYR):c.175C>T (p.Leu59Phe) rs1001944031
NM_000372.5(TYR):c.182C>A (p.Ser61Tyr)
NM_000372.5(TYR):c.236C>G (p.Ser79Trp) rs544053015
NM_000372.5(TYR):c.258T>G (p.Asn86Lys) rs1464099781
NM_000372.5(TYR):c.263C>A (p.Thr88Asn)
NM_000372.5(TYR):c.355G>T (p.Val119Leu) rs2135242140
NM_000372.5(TYR):c.372C>G (p.Phe124Leu) rs935942144
NM_000372.5(TYR):c.373G>A (p.Asp125Asn) rs13312741
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.437G>A (p.Ser146Asn) rs1214974325
NM_000372.5(TYR):c.437G>T (p.Ser146Ile) rs1214974325
NM_000372.5(TYR):c.44C>T (p.Thr15Ile) rs776657313
NM_000372.5(TYR):c.455C>G (p.Pro152Arg) rs1464062644
NM_000372.5(TYR):c.463A>T (p.Thr155Ser) rs2496529372
NM_000372.5(TYR):c.505G>A (p.Asp169Asn) rs753049427
NM_000372.5(TYR):c.524T>C (p.Leu175Pro) rs1064795343
NM_000372.5(TYR):c.529G>A (p.Val177Ile)
NM_000372.5(TYR):c.537G>T (p.Met179Ile) rs1413966492
NM_000372.5(TYR):c.542A>T (p.Tyr181Phe) rs2496529708
NM_000372.5(TYR):c.578A>C (p.Glu193Ala) rs751717415
NM_000372.5(TYR):c.580A>G (p.Ile194Val) rs1943258578
NM_000372.5(TYR):c.587G>A (p.Arg196Lys) rs1307621512
NM_000372.5(TYR):c.593T>A (p.Ile198Asn) rs750553908
NM_000372.5(TYR):c.620T>G (p.Phe207Cys) rs2496530104
NM_000372.5(TYR):c.659A>G (p.Gln220Arg) rs2135242554
NM_000372.5(TYR):c.680G>A (p.Gly227Glu) rs770276552
NM_000372.5(TYR):c.680_682del (p.Gly227del) rs61754366
NM_000372.5(TYR):c.706T>C (p.Trp236Arg) rs2135242624
NM_000372.5(TYR):c.708G>C (p.Trp236Cys) rs769204360
NM_000372.5(TYR):c.730T>G (p.Cys244Gly) rs2135242686
NM_000372.5(TYR):c.74T>C (p.Val25Ala) rs2533920752
NM_000372.5(TYR):c.750G>C (p.Glu250Asp) rs1419970240
NM_000372.5(TYR):c.754A>T (p.Met252Leu) rs201920649
NM_000372.5(TYR):c.767A>C (p.His256Pro)
NM_000372.5(TYR):c.767A>G (p.His256Arg) rs1289102976
NM_000372.5(TYR):c.803TCT[1] (p.Phe269del) rs1064796028
NM_000372.5(TYR):c.841G>A (p.Glu281Lys) rs142629239
NM_000372.5(TYR):c.844T>C (p.Tyr282His) rs2135253111
NM_000372.5(TYR):c.855T>A (p.His285Gln) rs2135253132
NM_000372.5(TYR):c.877C>A (p.Pro293Thr) rs1218953194
NM_000372.5(TYR):c.87C>A (p.Asn29Lys) rs748836772
NM_000372.5(TYR):c.891A>T (p.Leu297Phe) rs61754373
NM_000372.5(TYR):c.938C>A (p.Pro313His) rs61754378
NM_000372.5(TYR):c.947C>A (p.Ala316Asp) rs2496552812
NM_000372.5(TYR):c.950A>G (p.Asp317Gly) rs750808134

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