ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP
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.1118G>A (p.Gly373Asp) rs869312227
NM_000169.2(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.2(GLA):c.1188del (p.Tyr397fs) rs879253955
NM_000169.2(GLA):c.154T>C (p.Cys52Arg) rs1057521047
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.334C>T (p.Arg112Cys) rs104894834
NM_000169.2(GLA):c.370-2A>G rs730880444
NM_000169.2(GLA):c.402T>G (p.Tyr134Ter) rs1183869568
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.548-1G>A rs730880447
NM_000169.2(GLA):c.620_621AT[1] (p.Met208fs) rs1064796601
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.707G>A (p.Trp236Ter) rs879254022
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.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.901C>T (p.Arg301Ter) rs398123224
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228

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