List of variants in gene PMP22 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

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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.-6G>T	rs369779295	0.00113
NM_000304.4(PMP22):c.178+7C>A	rs147885521	0.00111
NM_000304.4(PMP22):c.79-6C>T	rs201682989	0.00069
NM_000304.4(PMP22):c.320-4C>T	rs377467465	0.00024
NM_000304.4(PMP22):c.87C>T (p.Ile29=)	rs201192820	0.00014
NM_000304.4(PMP22):c.152A>G (p.His51Arg)	rs368908933	0.00005
NM_000304.4(PMP22):c.383C>T (p.Ser128Leu)	rs778731157	0.00004
NM_000304.4(PMP22):c.*4G>A	rs570955542
NM_000304.4(PMP22):c.*92A>C
NM_000304.4(PMP22):c.10C>T (p.Leu4=)
NM_000304.4(PMP22):c.117G>A (p.Trp39Ter)	rs797044846
NM_000304.4(PMP22):c.178+5559T>A
NM_000304.4(PMP22):c.178+5571C>G
NM_000304.4(PMP22):c.178+5571C>T
NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)	rs1907114176
NM_000304.4(PMP22):c.320-2133T>C
NM_000304.4(PMP22):c.320-2210G>A
NM_000304.4(PMP22):c.320-2244T>C

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