ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported by Mendelics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
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.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.2T>A (p.Met1Lys) rs1555987232
NM_000169.3(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.3(GLA):c.476T>C (p.Phe159Ser) rs1555985814
NM_000169.3(GLA):c.782del (p.Gly261fs) rs869312400

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