ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as uncertain significance for Cardiovascular phenotype

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.419A>C (p.Lys140Thr) rs150228150 0.00003
NM_000169.3(GLA):c.566T>G (p.Leu189Trp) rs1555985577 0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.122C>G (p.Thr41Ser) rs782362194 0.00002
NM_000169.3(GLA):c.192C>T (p.Ile64=) rs1555987080 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.481G>A (p.Asp161Asn) rs1386622522 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.313A>G (p.Arg105Gly) rs782092398 0.00001
NM_000169.3(GLA):c.616C>G (p.Leu206Val) rs730880448 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.1022A>C (p.Glu341Ala)
NM_000169.3(GLA):c.1046G>C (p.Trp349Ser) rs869312218
NM_000169.3(GLA):c.1059G>A (p.Met353Ile)
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1238T>C (p.Val413Ala)
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.3(GLA):c.1285_1289del (p.Leu429fs)
NM_000169.3(GLA):c.17C>G (p.Pro6Arg) rs1928600137
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.317T>C (p.Leu106Pro)
NM_000169.3(GLA):c.344A>C (p.His115Pro) rs1928402204
NM_000169.3(GLA):c.369+3G>A rs1333591942
NM_000169.3(GLA):c.369+4A>T
NM_000169.3(GLA):c.475T>C (p.Phe159Leu) rs1928321516
NM_000169.3(GLA):c.476T>A (p.Phe159Tyr)
NM_000169.3(GLA):c.491T>C (p.Val164Ala)
NM_000169.3(GLA):c.525C>A (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.540G>C (p.Leu180Phe)
NM_000169.3(GLA):c.574A>T (p.Asn192Tyr) rs1555985569
NM_000169.3(GLA):c.616C>T (p.Leu206Phe) rs730880448
NM_000169.3(GLA):c.624G>A (p.Met208Ile)
NM_000169.3(GLA):c.662A>G (p.Gln221Arg)
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.74A>T (p.Asp25Val)
NM_000169.3(GLA):c.796G>C (p.Asp266His)
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu) rs1057518537

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