ClinVar Miner

List of variants reported as pathogenic for demyelinating hereditary motor and sensory neuropathy by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933

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