ClinVar Miner

List of variants in gene PMP22 reported as likely benign for demyelinating hereditary motor and sensory neuropathy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000304.4(PMP22):c.*105_*109CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*1111G>T rs7415
NM_000304.4(PMP22):c.*1120T>C rs11654383
NM_000304.4(PMP22):c.*173C>T rs117277951
NM_000304.4(PMP22):c.*228G>A rs1804193
NM_000304.4(PMP22):c.*525_*526CT[1] rs71699667
NM_000304.4(PMP22):c.*577T>C rs7538
NM_000304.4(PMP22):c.*828G>A rs13027
NM_000304.4(PMP22):c.*912G>A rs149070440
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.-74A>G rs114365663
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.79-6C>T rs201682989

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