ClinVar Miner

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

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Total variants: 89
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HGVS dbSNP
NM_000169.2(GLA):c.-13G>C rs782051708
NM_000169.2(GLA):c.-1A>G rs1555987235
NM_000169.2(GLA):c.-24T>G
NM_000169.2(GLA):c.-32G>A rs1057523740
NM_000169.2(GLA):c.-44C>G rs781906252
NM_000169.2(GLA):c.-44C>T
NM_000169.2(GLA):c.1008C>T (p.Asn336=) rs901454780
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.2(GLA):c.1029_1030TC[2] (p.Ser345fs) rs398123198
NM_000169.2(GLA):c.1037del (p.Gly346fs) rs879253990
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.2(GLA):c.1081G>A (p.Gly361Arg) rs28935494
NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.2(GLA):c.1093T>A (p.Tyr365Asn) rs367658155
NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.2(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.2(GLA):c.1127T>A (p.Val376Glu) rs1555984793
NM_000169.2(GLA):c.112A>G (p.Arg38Gly) rs730880446
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.1188del (p.Tyr397fs) rs879253955
NM_000169.2(GLA):c.1191T>C (p.Tyr397=) rs869312236
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.1241T>C (p.Leu414Ser) rs869312246
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.2(GLA):c.1261A>G (p.Met421Val) rs144060196
NM_000169.2(GLA):c.1285del (p.Leu429fs) rs1555984717
NM_000169.2(GLA):c.133C>T (p.Leu45=) rs143084761
NM_000169.2(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.242G>A (p.Trp81Ter) rs398123208
NM_000169.2(GLA):c.26del (p.His9fs) rs1555987215
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.2(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.2(GLA):c.345T>C (p.His115=) rs782260908
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.369+163A>G
NM_000169.2(GLA):c.370-2A>G rs730880444
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.402T>G (p.Tyr134Ter) rs1183869568
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.2(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.501A>T (p.Leu167=) rs782486830
NM_000169.2(GLA):c.547+190C>T
NM_000169.2(GLA):c.548-1G>A rs730880447
NM_000169.2(GLA):c.596T>C (p.Val199Ala) rs781871113
NM_000169.2(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.2(GLA):c.616C>G (p.Leu206Val) rs730880448
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.620_621AT[1] (p.Met208fs) rs1064796601
NM_000169.2(GLA):c.639+6A>C rs200096940
NM_000169.2(GLA):c.639+858C>G
NM_000169.2(GLA):c.640-136T>C
NM_000169.2(GLA):c.640-731G>A rs2473815
NM_000169.2(GLA):c.640-854_640-853delAG rs201655854
NM_000169.2(GLA):c.644A>G (p.Asn215Ser) rs28935197
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.695T>G (p.Ile232Ser) rs797044749
NM_000169.2(GLA):c.6G>A (p.Gln2=) rs782748047
NM_000169.2(GLA):c.700G>A (p.Asp234Asn) rs1057524557
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.2(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.2(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.2(GLA):c.721A>G (p.Ser241Gly) rs730880438
NM_000169.2(GLA):c.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.801+14C>T rs200744672
NM_000169.2(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.2(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.2(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.88A>C (p.Arg30=)
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.2(GLA):c.967C>A (p.Pro323Thr) rs147737890
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.2(GLA):c.984G>T (p.Gly328=) rs376623208
NM_000169.2(GLA):c.991C>T (p.Leu331Phe) rs730880437
NM_000169.2(GLA):c.994_995delinsGA (p.Arg332Glu) rs1057518537
NM_000169.2:c.639+739C>T
NM_000169.2:c.640-749C>T

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