ClinVar Miner

List of variants studied for Hereditary liability to pressure palsies by Inherited Neuropathy Consortium

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Total variants: 6
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NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter) rs1597597683
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) rs1597597678
NM_153321.3(PMP22):c.433dup (p.Leu145fs) rs1567698872
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560

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