ClinVar Miner

List of variants in gene MAGEL2 studied for Prader-Willi syndrome

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_019066.4(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019066.4(MAGEL2):c.1652delT (p.Val551Aspfs) rs398122415
NM_019066.4(MAGEL2):c.1715C>T (p.Ala572Val) rs1064797195
NM_019066.4(MAGEL2):c.1761G>A (p.Trp587Ter)
NM_019066.4(MAGEL2):c.1762C>T (p.Gln588Ter) rs866419580
NM_019066.4(MAGEL2):c.1802delC (p.Pro601Glnfs) rs398122416
NM_019066.4(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.4(MAGEL2):c.1996delC (p.Gln666Serfs) rs770374710
NM_019066.4(MAGEL2):c.1996dupC (p.Gln666Profs) rs770374710
NM_019066.4(MAGEL2):c.2118delT (p.Leu708Trpfs) rs1555374227
NM_019066.4(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480
NM_019066.4(MAGEL2):c.2958delG (p.Ser987Alafs) rs1060499934
NM_019066.4(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273
NM_019066.4(MAGEL2):c.3124C>T (p.Gln1042Ter) rs398122418
NM_019066.4(MAGEL2):c.3181_3182delAT (p.Ile1061Hisfs) rs398122417
NM_019066.4(MAGEL2):c.3208G>T (p.Glu1070Ter) rs869312694
NM_019066.4(MAGEL2):c.353C>T (p.Pro118Leu) rs1131691985
NM_019066.4(MAGEL2):c.37_38insAC (p.Pro13Hisfs) rs1250752332
NM_019066.5(MAGEL2):c.2170_2232dup (p.Ala744_Pro745insSerSerIleAspArgArgGlySerSerLysGluArgArgThrSerSerLysGluArgArgAla)

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