ClinVar Miner

List of variants in gene PLEKHG5 studied for Distal spinal muscular atrophy

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Total variants: 9
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HGVS dbSNP
NM_001265594.2(PLEKHG5):c.2737+22_2737+24del rs536097668
NM_020631.5(PLEKHG5):c.*750del rs886046493
NM_020631.5(PLEKHG5):c.*765del rs372197062
NM_020631.5(PLEKHG5):c.*981dup rs553519753
NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[7] (p.Glu723del) rs113541584
NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup) rs113541584
NM_020631.5(PLEKHG5):c.2249+4C>T rs751575330
NM_020631.5(PLEKHG5):c.43+14_43+20del rs527883968

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