ClinVar Miner

List of variants studied for Hereditary liability to pressure palsies by OMIM

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Total variants: 7
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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.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
PMP22, 1.1- to 1.5-MB DEL

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