ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 studied for Cardiovascular phenotype

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Total variants: 16
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HGVS dbSNP
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.213G>A (p.Glu71=) rs886039140
NM_000169.2(GLA):c.295dupC (p.Gln99Profs) rs886039136
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.369+3G>A rs1333591942
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.574A>T (p.Asn192Tyr) rs1555985569
NM_000169.2(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.2(GLA):c.667T>C (p.Cys223Arg) rs869312381
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.978G>A (p.Lys326=) rs151195362

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