ClinVar Miner

List of variants in gene PMP22 reported as likely benign for chromosomal disorder

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_000304.4(PMP22):c.396C>T (p.Tyr132=) rs74361095 0.00743
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*525CT[1] rs71699667

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