ClinVar Miner

List of variants in gene GLA, RPL36A-HNRNPH2 studied for Cardiomyopathy

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00315
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
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.123C>T (p.Thr41=) rs137902198 0.00016
NM_000169.3(GLA):c.-8C>G rs371291716 0.00015
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00004
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00004
NM_000169.3(GLA):c.659G>A (p.Arg220Gln) rs869312378 0.00001
NM_000169.3(GLA):c.1207T>C (p.Leu403=) rs869312239
NM_000169.3(GLA):c.1234A>G (p.Thr412Ala) rs2147470521
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.3(GLA):c.28C>T (p.Leu10=) rs727503073
NM_000169.3(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.486G>A (p.Trp162Ter) rs869312311
NM_000169.3(GLA):c.601T>G (p.Ser201Ala) rs782164447
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.639+3G>A rs1569303777
NM_000169.3(GLA):c.640-854_640-853del rs201655854
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871

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