ClinVar Miner

List of variants studied for Roussy-Levy syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382
NM_000530.8(MPZ):c.*1020G>A rs886045472
NM_000530.8(MPZ):c.*1048A>T rs71639057
NM_000530.8(MPZ):c.*1074A>C rs886045471
NM_000530.8(MPZ):c.*195G>T rs150182811
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*568C>G rs60731755
NM_000530.8(MPZ):c.*624C>T rs60821801
NM_000530.8(MPZ):c.*681A>T rs886045474
NM_000530.8(MPZ):c.*743C>T rs140992541
NM_000530.8(MPZ):c.*761A>G rs16832786
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*901_*902GA[7] rs149030537
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
PMP22, 1.4-MB DUP

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