ClinVar Miner

List of variants reported as uncertain significance for Hereditary liability to pressure palsies

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Total variants: 28
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HGVS dbSNP
NM_000304.3(PMP22):c.-223C>T rs549380262
NM_000304.4(PMP22):c.*1049C>G rs750733887
NM_000304.4(PMP22):c.*174G>A
NM_000304.4(PMP22):c.*205C>A rs189734097
NM_000304.4(PMP22):c.*243C>T rs533987307
NM_000304.4(PMP22):c.*3C>T rs373690370
NM_000304.4(PMP22):c.*542C>T rs184928176
NM_000304.4(PMP22):c.*544C>T
NM_000304.4(PMP22):c.*596G>T
NM_000304.4(PMP22):c.*63A>C
NM_000304.4(PMP22):c.*818T>C
NM_000304.4(PMP22):c.*894C>T
NM_000304.4(PMP22):c.*907C>A
NM_000304.4(PMP22):c.*911C>T
NM_000304.4(PMP22):c.*961C>G
NM_000304.4(PMP22):c.*985C>T rs886052610
NM_000304.4(PMP22):c.-34-5C>T rs375105159
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
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_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
NM_153321.3(PMP22):c.433dup (p.Leu145fs) rs1567698872
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560

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