ClinVar Miner

List of variants in gene PMP22 studied for Hereditary liability to pressure palsies

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Gene type:
ClinVar version:
Total variants: 53
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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.*105_*109CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*1111G>T rs7415
NM_000304.4(PMP22):c.*1120T>C rs11654383
NM_000304.4(PMP22):c.*173C>T rs117277951
NM_000304.4(PMP22):c.*174G>A
NM_000304.4(PMP22):c.*200T>G
NM_000304.4(PMP22):c.*205C>A rs189734097
NM_000304.4(PMP22):c.*228G>A rs1804193
NM_000304.4(PMP22):c.*243C>T rs533987307
NM_000304.4(PMP22):c.*26T>C rs200563670
NM_000304.4(PMP22):c.*376C>T
NM_000304.4(PMP22):c.*3C>T rs373690370
NM_000304.4(PMP22):c.*525_*526CT[1] rs71699667
NM_000304.4(PMP22):c.*542C>T rs184928176
NM_000304.4(PMP22):c.*544C>T
NM_000304.4(PMP22):c.*577T>C rs7538
NM_000304.4(PMP22):c.*596G>T
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000304.4(PMP22):c.*63A>C
NM_000304.4(PMP22):c.*818T>C
NM_000304.4(PMP22):c.*828G>A rs13027
NM_000304.4(PMP22):c.*890C>T
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.*912G>A rs149070440
NM_000304.4(PMP22):c.*961C>G
NM_000304.4(PMP22):c.*985C>T rs886052610
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.-34-5C>T rs375105159
NM_000304.4(PMP22):c.-74A>G rs114365663
NM_000304.4(PMP22):c.-86A>C
NM_000304.4(PMP22):c.178+7C>A rs147885521
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)
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.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.403G>A (p.Ala135Thr) rs141094419
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
NM_000304.4(PMP22):c.78+3G>T rs1597635528
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_153321.3(PMP22):c.433dup (p.Leu145fs) rs1567698872
PMP22, 1.1- to 1.5-MB DEL

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