List of variants in gene PMP22 reported as uncertain significance for chromosomal disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	rs104894619	0.00378
NM_000304.4(PMP22):c.*205C>A	rs189734097	0.00154
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.-134G>A	rs754758124	0.00013
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.185T>G (p.Leu62Arg)	rs756046682	0.00004
NM_000304.4(PMP22):c.*174G>A	rs1386490077	0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	rs755701957	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.478G>A (p.Glu160Lys)	rs1022583382	0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)	rs765741053	0.00001
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.102C>A (p.His34Gln)	rs779654897
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro)	rs1907131144
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)	rs189205303
NM_000304.4(PMP22):c.281dup (p.Arg95fs)	rs80338763
NM_000304.4(PMP22):c.341C>T (p.Ala114Val)	rs1217342392
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

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