ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported by Invitae

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Total variants: 146
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HGVS dbSNP
NC_000023.11:g.(?_101401237)_(101403995_?)dup
NC_000023.11:g.(?_101403791)_(101404005_?)del
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.1007A>C (p.Asn336Thr) rs1569302786
NM_000169.2(GLA):c.1016T>C (p.Val339Ala)
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) rs28935493
NM_000169.2(GLA):c.1046G>C (p.Trp349Ser) rs869312218
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) rs797044774
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.2(GLA):c.1095T>C (p.Tyr365=) rs104894849
NM_000169.2(GLA):c.109G>C (p.Ala37Pro) rs869312226
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.1127T>A (p.Val376Glu) rs1555984793
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.1175G>C (p.Arg392Thr) rs782756052
NM_000169.2(GLA):c.1184G>C (p.Gly395Ala) rs375661583
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.1207T>C (p.Leu403=) rs869312239
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.124A>G (p.Met42Val) rs797044613
NM_000169.2(GLA):c.1256A>T (p.Asn419Ile) rs1060500749
NM_000169.2(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.2(GLA):c.133C>T (p.Leu45=) rs143084761
NM_000169.2(GLA):c.141G>C (p.Trp47Cys) rs1555987101
NM_000169.2(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.2(GLA):c.185C>T (p.Ser62Phe) rs1603047699
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.247G>A (p.Asp83Asn) rs782722577
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.277G>A (p.Asp93Asn) rs869312270
NM_000169.2(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.2(GLA):c.298A>T (p.Arg100Ter) rs869312272
NM_000169.2(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.33C>T (p.Gly11=) rs781856890
NM_000169.2(GLA):c.369T>C (p.Tyr123=) rs869312282
NM_000169.2(GLA):c.402T>C (p.Tyr134=) rs1183869568
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.419A>C (p.Lys140Thr) rs150228150
NM_000169.2(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.2(GLA):c.476T>G (p.Phe159Cys) rs1555985814
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.2(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.2(GLA):c.520T>C (p.Cys174Arg) rs181562693
NM_000169.2(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.2(GLA):c.590G>A (p.Ser197Asn) rs201679091
NM_000169.2(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.596T>C (p.Val199Ala) rs781871113
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.2(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.2(GLA):c.640-11T>C rs782634293
NM_000169.2(GLA):c.640-1G>A rs398123216
NM_000169.2(GLA):c.640-1del rs1555985200
NM_000169.2(GLA):c.640-4A>C rs1060500748
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.2(GLA):c.661C>T (p.Gln221Ter) rs797044747
NM_000169.2(GLA):c.666C>A (p.Tyr222Ter) rs104894851
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) rs104894841
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.2(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.2(GLA):c.6G>A (p.Gln2=) rs782748047
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.2(GLA):c.735G>A (p.Trp245Ter) rs1060500747
NM_000169.2(GLA):c.748C>A (p.Gln250Lys) rs398123221
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) rs869312396
NM_000169.2(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.2(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.2(GLA):c.777del (p.Gly261fs) rs1569303213
NM_000169.2(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.2(GLA):c.818T>C (p.Phe273Ser) rs869312430
NM_000169.2(GLA):c.826A>G (p.Ser276Gly) rs869312432
NM_000169.2(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.2(GLA):c.831G>C (p.Trp277Cys) rs782196174
NM_000169.2(GLA):c.85G>A (p.Ala29Thr) rs142449183
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.870G>A (p.Met290Ile) rs869312438
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.2(GLA):c.994_995delinsGA (p.Arg332Glu) rs1057518537
NM_000169.3(GLA):c.1031_1034dup (p.Gly346fs)
NM_000169.3(GLA):c.1098C>T (p.Thr366=) rs1207270634
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.3(GLA):c.202C>T (p.Leu68Phe)
NM_000169.3(GLA):c.313A>G (p.Arg105Gly)
NM_000169.3(GLA):c.344A>C (p.His115Pro)
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.361G>C (p.Ala121Pro)
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.3(GLA):c.413G>A (p.Gly138Glu)
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.431G>T (p.Gly144Val)
NM_000169.3(GLA):c.475T>C (p.Phe159Leu)
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.3(GLA):c.525C>A (p.Asp175Glu)
NM_000169.3(GLA):c.545A>G (p.Asp182Gly)
NM_000169.3(GLA):c.548-10T>A
NM_000169.3(GLA):c.601T>C (p.Ser201Pro)
NM_000169.3(GLA):c.635A>G (p.Gln212Arg)
NM_000169.3(GLA):c.639+10_639+13del rs782473708
NM_000169.3(GLA):c.639+5G>A
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.3(GLA):c.646T>G (p.Tyr216Asp)
NM_000169.3(GLA):c.673C>G (p.His225Asp)
NM_000169.3(GLA):c.700G>C (p.Asp234His)
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.801+10T>G rs1603038845
NM_000169.3(GLA):c.811G>A (p.Gly271Ser)
NM_000169.3(GLA):c.85G>T (p.Ala29Ser)
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.3(GLA):c.889T>C (p.Ser297Pro)
NM_000169.3(GLA):c.891T>C (p.Ser297=) rs782575087
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.3(GLA):c.950T>C (p.Ile317Thr)
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362
NM_001199973.2(RPL36A-HNRNPH2):c.300+2431_300+2433del rs869312241
NM_001199973.2(RPL36A-HNRNPH2):c.300+2502_300+2517del rs876661347
NM_001199973.2(RPL36A-HNRNPH2):c.300+2608GA[2] rs398123198
NM_001199973.2(RPL36A-HNRNPH2):c.300+3344dup rs1555985091
NM_001199973.2(RPL36A-HNRNPH2):c.300+3411_300+3412del rs869312389
NM_001199973.2(RPL36A-HNRNPH2):c.300+6225_300+6226delinsCC rs1603041916
NM_001199973.2(RPL36A-HNRNPH2):c.301-4058del rs1555987215
NM_001199973.2(RPL36A-HNRNPH2):c.301-4080_301-4076del rs869312316

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