ClinVar Miner

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

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.605G>C (p.Cys202Ser) rs869312344 0.00001
NC_000023.11:g.(?_101401237)_(101403995_?)dup
NM_000169.3(GLA):c.1076T>C (p.Ile359Thr) rs1928132914
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.3(GLA):c.1079G>A (p.Gly360Asp) rs782509013
NM_000169.3(GLA):c.109G>A (p.Ala37Thr) rs869312226
NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr)
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.137A>C (p.His46Pro)
NM_000169.3(GLA):c.176A>T (p.Glu59Val)
NM_000169.3(GLA):c.197A>G (p.Glu66Gly) rs869312264
NM_000169.3(GLA):c.202C>T (p.Leu68Phe) rs1928411447
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.254G>C (p.Gly85Ala) rs1569304898
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.3(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.3(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.3(GLA):c.358C>G (p.Leu120Val)
NM_000169.3(GLA):c.361G>C (p.Ala121Pro) rs782197638
NM_000169.3(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.3(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.454T>G (p.Tyr152Asp) rs1928323615
NM_000169.3(GLA):c.476T>G (p.Phe159Cys) rs1555985814
NM_000169.3(GLA):c.47T>C (p.Leu16Pro)
NM_000169.3(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000169.3(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.3(GLA):c.639+2T>C rs2147475773
NM_000169.3(GLA):c.640-1del rs1555985200
NM_000169.3(GLA):c.640-859C>T rs869312374
NM_000169.3(GLA):c.674A>G (p.His225Arg) rs2147473301
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.697GAT[1] (p.Asp234del) rs1928194190
NM_000169.3(GLA):c.748C>A (p.Gln250Lys) rs398123221
NM_000169.3(GLA):c.749A>C (p.Gln250Pro) rs869312396
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.778G>A (p.Gly260Arg) rs2147472959
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.3(GLA):c.812G>T (p.Gly271Val) rs869312429
NM_000169.3(GLA):c.818T>C (p.Phe273Ser) rs869312430
NM_000169.3(GLA):c.820G>C (p.Gly274Arg) rs2147472458
NM_000169.3(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.3(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.3(GLA):c.871G>A (p.Ala291Thr) rs869312439
NM_000169.3(GLA):c.886A>T (p.Met296Leu)
NM_000169.3(GLA):c.887T>C (p.Met296Thr) rs869312442
NM_000169.3(GLA):c.889T>C (p.Ser297Pro) rs1928167952
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr) rs28935489
NM_000169.3(GLA):c.908T>A (p.Ile303Asn)
NM_000169.3(GLA):c.92C>T (p.Ala31Val) rs869312448
NM_000169.3(GLA):c.983G>A (p.Gly328Glu)

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