ClinVar Miner

List of variants reported as uncertain significance for Schaaf-Yang syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) rs933647897 0.00009
NM_005068.3(SIM1):c.*1484T>C rs886060891 0.00001
NM_005068.3(SIM1):c.743+10C>G rs886060897 0.00001
NM_005068.3(SIM1):c.*1447TG[4] rs886060892
NM_005068.3(SIM1):c.-200del rs146022425
NM_019066.5(MAGEL2):c.48G>T (p.Glu16Asp) rs2140719597

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