ClinVar Miner

List of variants studied for Prader-Willi syndrome by Baylor Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004667.6(HERC2):c.7069+3G>A rs778173804 0.00003
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) rs1267794670 0.00002
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg) rs1397065690 0.00001
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter) rs1890410630
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser) rs1890407784
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs) rs398122416
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) rs1890385864
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln) rs1890360315
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter) rs398122418
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs) rs398122417
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser) rs983547801

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