ClinVar Miner

List of variants studied for Hereditary liability to pressure palsies

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_000304.4(PMP22):c.-74A>G rs114365663 0.01441
NM_000304.4(PMP22):c.-86A>C rs140650630 0.00832
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000304.4(PMP22):c.*912G>A rs149070440 0.00366
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_000304.4(PMP22):c.*205C>A rs189734097 0.00154
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000304.4(PMP22):c.*200T>G rs142106420 0.00063
NM_000304.4(PMP22):c.*173C>T rs117277951 0.00044
NM_000304.4(PMP22):c.*542C>T rs184928176 0.00042
NM_000304.4(PMP22):c.-34-5C>T rs375105159 0.00037
NM_000304.4(PMP22):c.*1049C>G rs750733887 0.00035
NM_000304.4(PMP22):c.*894C>T rs916402753 0.00021
NM_000304.4(PMP22):c.*3C>T rs373690370 0.00016
NM_000304.3(PMP22):c.-223C>T rs549380262 0.00014
NM_000304.4(PMP22):c.*243C>T rs533987307 0.00012
NM_000304.4(PMP22):c.*544C>T rs1329536994 0.00008
NM_000304.4(PMP22):c.*985C>T rs886052610 0.00008
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_000304.4(PMP22):c.*890C>T rs546778557 0.00006
NM_000304.4(PMP22):c.*174G>A rs1386490077 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_000304.4(PMP22):c.*907C>A rs963622100 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 0.00001
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 17p12(chr17:15133096-15164093)x1
GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1
GRCh37/hg19 2q13(chr2:110824957-110983703)
NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del
NM_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*376C>T rs575964802
NM_000304.4(PMP22):c.*525CT[1] rs71699667
NM_000304.4(PMP22):c.*596G>T rs1205135654
NM_000304.4(PMP22):c.*63A>C rs1906244590
NM_000304.4(PMP22):c.*818T>C rs529200588
NM_000304.4(PMP22):c.*911C>T rs1015965333
NM_000304.4(PMP22):c.*961C>G rs760879114
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro) rs1907131144
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) rs189205303
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.289del (p.Tyr97fs) rs1597607713
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.433dup (p.Leu145fs) rs1567698872
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.78+3G>T rs1597635528
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del

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