ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease recessive intermediate C by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 6
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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.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_020631.6(PLEKHG5):c.1393-22dup rs111312565

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