ClinVar Miner

List of variants in gene combination LOC126805598, PLEKHG5 reported as benign for Charcot-Marie-Tooth disease recessive intermediate C

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.43+13G>A rs78593902 0.07001
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=) rs114209691 0.00830
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_020631.6(PLEKHG5):c.43+20G>T rs200779049 0.00013
NM_020631.6(PLEKHG5):c.43+14_43+20del rs527883968

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