ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456 0.00002
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg) rs202191898
NM_020631.6(PLEKHG5):c.38del (p.Pro13fs) rs397515454
NM_020631.6(PLEKHG5):c.912_918dup (p.Glu307Ter) rs397515455

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