ClinVar Miner

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

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Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.1000-22C>T rs2071228 0.33579
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_001199973.2(RPL36A-HNRNPH2):c.300+2198C>T rs35019768 0.12324
NM_000169.3(GLA):c.639+771C>T rs5991933 0.07381
NM_001199973.2(RPL36A-HNRNPH2):c.300+2077C>T rs146101947 0.06647
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.640-136T>C rs3027592 0.06552
NM_000169.3(GLA):c.639+68A>G rs3027589 0.06497
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000169.3(GLA):c.547+102A>G rs3027588 0.04292
NM_000169.3(GLA):c.640-319A>G rs3027590 0.04056
NM_000169.2(GLA):c.-105A>G rs3027583 0.04009
NM_000169.3(GLA):c.547+190C>T rs41311559 0.03222
NM_000169.3(GLA):c.639+739C>T rs146083243 0.01996
NM_000169.2(GLA):c.-30G>A rs3027584 0.00873
NM_000169.3(GLA):c.640-532G>A rs143833648 0.00740
NM_001199973.2(RPL36A-HNRNPH2):c.301-3908A>C rs185255090 0.00585
NM_000169.3(GLA):c.640-749C>T rs148135742 0.00529
NM_000169.3(GLA):c.369+163A>G rs370226383 0.00524
NM_000169.3(GLA):c.194+17A>G rs2071226 0.00379
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001199973.2(RPL36A-HNRNPH2):c.300+2303T>C rs191249601 0.00265
NM_000169.3(GLA):c.640-731G>A rs2473815 0.00218
NM_000169.3(GLA):c.640-607G>T rs185121865 0.00102
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.-44C>T rs781906252 0.00025
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000169.3(GLA):c.123C>T (p.Thr41=) rs137902198 0.00017
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000169.2(GLA):c.-32G>A rs1057523740 0.00005
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000169.3(GLA):c.-13G>C rs782051708 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000169.3(GLA):c.639+796C>A rs184705124 0.00004
NM_000169.3(GLA):c.6G>A (p.Gln2=) rs782748047 0.00004
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000169.3(GLA):c.419A>C (p.Lys140Thr) rs150228150 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_001199973.2(RPL36A-HNRNPH2):c.300+2319C>T rs782094147 0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.195T>C (p.Ser65=) rs782803696 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.320A>G (p.Gln107Arg) rs727505060 0.00002
NM_000169.3(GLA):c.457G>A (p.Asp153Asn) rs370299397 0.00002
NM_000169.3(GLA):c.501A>T (p.Leu167=) rs782486830 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.984G>T (p.Gly328=) rs376623208 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000169.3(GLA):c.1008C>T (p.Asn336=) rs901454780 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.1127T>A (p.Val376Glu) rs1555984793 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.1191T>C (p.Tyr397=) rs869312236 0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000169.3(GLA):c.133C>T (p.Leu45=) rs143084761 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.345T>C (p.His115=) rs782260908 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.616C>G (p.Leu206Val) rs730880448 0.00001
NM_000169.3(GLA):c.640-11T>C rs782634293 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter) rs104894841 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.734G>T (p.Trp245Leu) rs398123220 0.00001
NM_000169.3(GLA):c.801+14C>T rs200744672 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000169.2(GLA):c.-24T>G rs1603048396
NM_000169.2(GLA):c.-44C>G rs781906252
NM_000169.3(GLA):c.-1A>G rs1555987235
NM_000169.3(GLA):c.1000-67del rs2147471526
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) rs398123198
NM_000169.3(GLA):c.1037del (p.Gly346fs) rs879253990
NM_000169.3(GLA):c.1046G>A (p.Trp349Ter) rs869312218
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.3(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.3(GLA):c.1081G>A (p.Gly361Arg) rs28935494
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.3(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.3(GLA):c.112A>G (p.Arg38Gly) rs730880446
NM_000169.3(GLA):c.1156C>T (p.Gln386Ter) rs869312233
NM_000169.3(GLA):c.1188del (p.Tyr397fs) rs879253955
NM_000169.3(GLA):c.1241T>C (p.Leu414Ser) rs869312246
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.3(GLA):c.1285del (p.Leu429fs) rs1555984717
NM_000169.3(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.3(GLA):c.170A>G (p.Gln57Arg) rs869312260
NM_000169.3(GLA):c.194+229TC[17] rs782246787
NM_000169.3(GLA):c.194+229TC[21] rs782246787
NM_000169.3(GLA):c.194+229TC[23] rs782246787
NM_000169.3(GLA):c.220G>A (p.Glu74Lys) rs2147480899
NM_000169.3(GLA):c.224_228delinsCA (p.Leu75_Met76delinsPro) rs2147480882
NM_000169.3(GLA):c.231C>T (p.Val77=) rs2147480878
NM_000169.3(GLA):c.242G>A (p.Trp81Ter) rs398123208
NM_000169.3(GLA):c.26del (p.His9fs) rs1555987215
NM_000169.3(GLA):c.272T>C (p.Ile91Thr) rs869312141
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.3(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.35G>T (p.Cys12Phe)
NM_000169.3(GLA):c.370-2A>G rs730880444
NM_000169.3(GLA):c.370-81_370-77del rs5903184
NM_000169.3(GLA):c.402T>G (p.Tyr134Ter) rs1183869568
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.451TAC[1] (p.Tyr152del) rs2147477618
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.547+163AATT[3] rs200739167
NM_000169.3(GLA):c.548-1G>A rs730880447
NM_000169.3(GLA):c.548-3C>A rs1603041223
NM_000169.3(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.3(GLA):c.611G>A (p.Trp204Ter) rs869312346
NM_000169.3(GLA):c.613C>G (p.Pro205Ala)
NM_000169.3(GLA):c.622_623del (p.Met208fs) rs1064796601
NM_000169.3(GLA):c.639+858C>G rs1603040086
NM_000169.3(GLA):c.640-133G>A rs2147473679
NM_000169.3(GLA):c.640-201_640-196del rs199939678
NM_000169.3(GLA):c.640-611_640-610del rs201073095
NM_000169.3(GLA):c.640-854_640-853del rs201655854
NM_000169.3(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.695T>G (p.Ile232Ser) rs797044749
NM_000169.3(GLA):c.700G>A (p.Asp234Asn) rs1057524557
NM_000169.3(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.3(GLA):c.721A>G (p.Ser241Gly) rs730880438
NM_000169.3(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.3(GLA):c.802-18T>A rs2147472564
NM_000169.3(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.3(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.3(GLA):c.85G>T (p.Ala29Ser) rs142449183
NM_000169.3(GLA):c.88A>C (p.Arg30=) rs1603047946
NM_000169.3(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.3(GLA):c.92C>G (p.Ala31Gly) rs869312448
NM_000169.3(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.3(GLA):c.95T>C (p.Leu32Pro) rs1569306168
NM_000169.3(GLA):c.967C>A (p.Pro323Thr) rs147737890
NM_000169.3(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu) rs1057518537
NM_000169.3(GLA):c.999+67del rs2147471663
NM_001199973.2(RPL36A-HNRNPH2):c.300+2092C>T rs140006150
NM_001199973.2(RPL36A-HNRNPH2):c.300+2113dup rs200620191
NM_001199973.2(RPL36A-HNRNPH2):c.301-3904T>C rs2147488325
NM_001199973.2(RPL36A-HNRNPH2):c.301-3906G>A rs2147488314

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