ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported by Albrecht-Kossel-Institute, Medical University Rostock

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.212A>G (p.Glu71Gly) rs781927744 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.104G>A (p.Gly35Glu) rs869312137
NM_000169.3(GLA):c.1067G>C (p.Arg356Pro) rs869312163
NM_000169.3(GLA):c.107T>G (p.Leu36Trp) rs869312138
NM_000169.3(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.3(GLA):c.1176G>T (p.Arg392Ser) rs869312165
NM_000169.3(GLA):c.190A>T (p.Ile64Phe) rs869312139
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.256T>C (p.Tyr86His) rs869312140
NM_000169.3(GLA):c.272T>A (p.Ile91Asn) rs869312141
NM_000169.3(GLA):c.337T>A (p.Phe113Ile) rs869312142
NM_000169.3(GLA):c.461T>C (p.Ile154Thr) rs869312143
NM_000169.3(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.561G>A (p.Met187Ile) rs869312146
NM_000169.3(GLA):c.588A>C (p.Arg196Ser) rs869312147
NM_000169.3(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.3(GLA):c.638A>G (p.Lys213Arg) rs869312149
NM_000169.3(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.3(GLA):c.657C>G (p.Ile219Met) rs869312151
NM_000169.3(GLA):c.680G>C (p.Arg227Pro) rs104894840
NM_000169.3(GLA):c.683A>G (p.Asn228Ser) rs869312152
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.761T>C (p.Val254Ala) rs869312153
NM_000169.3(GLA):c.784T>C (p.Trp262Arg) rs869312154
NM_000169.3(GLA):c.7C>G (p.Leu3Val) rs869312133
NM_000169.3(GLA):c.806T>G (p.Val269Gly) rs28935488
NM_000169.3(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.3(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.3(GLA):c.943G>A (p.Asp315Asn) rs869312156
NM_000169.3(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.3(GLA):c.950T>G (p.Ile317Ser) rs869312158
NM_000169.3(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.3(GLA):c.980A>G (p.Gln327Arg) rs869312160
NM_000169.3(GLA):c.980A>T (p.Gln327Leu) rs869312160
NM_000169.3(GLA):c.989A>G (p.Gln330Arg) rs869312161
NM_000169.3(GLA):c.98A>G (p.Asp33Gly) rs869312136

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