ClinVar Miner

List of variants studied for Hereditary liability to pressure palsies by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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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.266C>A (p.Thr89Asn)
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
NM_000304.4(PMP22):c.79-6C>T rs201682989

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