ClinVar Miner

List of variants reported as pathogenic for Hereditary liability to pressure palsies

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
GRCh37/hg19 17p12(chr17:14076989-15473312)
GRCh37/hg19 17p12(chr17:14095256-15477547)x1
GRCh37/hg19 17p12(chr17:14101029-15449627)
GRCh37/hg19 17p12(chr17:14104012-15551814)
GRCh37/hg19 17p12(chr17:14110451-15449097)
GRCh37/hg19 17p12(chr17:14128550-15422557)
GRCh37/hg19 2q13(chr2:110824957-110983703)
NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del

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