ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease recessive intermediate C

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_198681.4(PLEKHG5):c.-267G>A rs1556035 0.77574
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_020631.6(PLEKHG5):c.1681-20T>C rs2986753 0.18735
NM_020631.6(PLEKHG5):c.1393-16C>G rs747761762 0.02500
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922 0.00009
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456 0.00002
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344 0.00002
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302 0.00002
NM_020631.6(PLEKHG5):c.1132-2A>C rs1557742277 0.00001
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser) rs762546636 0.00001
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
NM_020631.6(PLEKHG5):c.1393-22dup rs111312565
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn) rs1644549269
NM_020631.6(PLEKHG5):c.1844C>A (p.Thr615Asn)
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg) rs202191898
NM_020631.6(PLEKHG5):c.2839G>A (p.Gly947Arg)
NM_020631.6(PLEKHG5):c.352G>A (p.Val118Met)
NM_020631.6(PLEKHG5):c.38del (p.Pro13fs) rs397515454
NM_020631.6(PLEKHG5):c.912_918dup (p.Glu307Ter) rs397515455
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566

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