ClinVar Miner

List of variants reported as likely benign for Prader-Willi syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_018958.3(NPAP1):c.663G>A (p.Met221Ile) rs35667483 0.01078
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_018958.3(NPAP1):c.3046G>T (p.Asp1016Tyr) rs74942536 0.00430
NM_004667.6(HERC2):c.3687C>T (p.Asp1229=) rs149204675 0.00190
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys) rs117802902 0.00025
NM_019066.5(MAGEL2):c.2611_2612delinsTT (p.Ala871Phe) rs386781907

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