ClinVar Miner

List of variants reported as uncertain significance for Roussy-Levy syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000530.8(MPZ):c.*1020G>A rs886045472
NM_000530.8(MPZ):c.*1074A>C rs886045471
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*681A>T rs886045474
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475

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