ClinVar Miner

List of variants in gene PLEKHG5 reported as likely benign for Distal spinal muscular atrophy, autosomal recessive 4

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Total variants: 12
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NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.5(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.5(PLEKHG5):c.440-10C>T rs201656051
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670

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