ClinVar Miner

List of variants studied for Prader-Willi syndrome

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_018958.3(NPAP1):c.663G>A (p.Met221Ile) rs35667483 0.01078
NM_018958.3(NPAP1):c.3046G>T (p.Asp1016Tyr) rs74942536 0.00430
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) rs148150960 0.00031
NM_004667.6(HERC2):c.7069+3G>A rs778173804 0.00003
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) rs759661460 0.00003
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) rs1377524842 0.00001
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) rs1009967374 0.00001
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) rs964772041 0.00001
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058)
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)
NM_002487.3(NDN):c.212A>G (p.Gln71Arg) rs1891161078
NM_002487.3(NDN):c.472dup (p.Thr158fs) rs1891151702
NM_002487.3(NDN):c.533G>A (p.Arg178Lys) rs1555376130
NM_002487.3(NDN):c.871C>A (p.Pro291Thr) rs2140756886
NM_004667.6(HERC2):c.11701-1G>A rs1891259083
NM_019066.5(MAGEL2):c.2099dup (p.Val701fs) rs2140714298
NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter) rs2140713056
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) rs1890356742
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) rs1267004913
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) rs779748148
NM_022807.5(SNRPN):c.-390-9497_-390-228del
Single allele

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