ClinVar Miner

List of variants in gene SIM1 studied for Prader-Willi syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_005068.2(SIM1):c.*1125T>C rs758539915
NM_005068.2(SIM1):c.*113A>T rs41318039
NM_005068.2(SIM1):c.*1278C>T rs886060893
NM_005068.2(SIM1):c.*1331T>C rs554615450
NM_005068.2(SIM1):c.*1447_*1448TG[4] rs886060892
NM_005068.2(SIM1):c.*1453G>T rs13201004
NM_005068.2(SIM1):c.*1484T>C rs886060891
NM_005068.2(SIM1):c.*183A>T rs145341368
NM_005068.2(SIM1):c.*348A>T rs1395119
NM_005068.2(SIM1):c.*375C>T rs114523604
NM_005068.2(SIM1):c.*450T>C rs537039330
NM_005068.2(SIM1):c.*51G>A rs55805997
NM_005068.2(SIM1):c.*583G>C rs776246157
NM_005068.2(SIM1):c.*589G>A rs769730169
NM_005068.2(SIM1):c.*99G>A rs777887808
NM_005068.2(SIM1):c.-127T>C rs41315244
NM_005068.2(SIM1):c.-181T>A rs886060899
NM_005068.2(SIM1):c.-200del rs146022425
NM_005068.2(SIM1):c.-58T>C rs886060898
NM_005068.2(SIM1):c.1054C>A (p.Pro352Thr) rs3734354
NM_005068.2(SIM1):c.1112C>T (p.Ala371Val) rs3734355
NM_005068.2(SIM1):c.1125C>T (p.Leu375=) rs886060896
NM_005068.2(SIM1):c.1236C>A (p.Thr412=) rs200106103
NM_005068.2(SIM1):c.1569T>C (p.His523=) rs138590764
NM_005068.2(SIM1):c.2111A>T (p.Gln704Leu) rs886060895
NM_005068.2(SIM1):c.2194T>C (p.Leu732=) rs886060894
NM_005068.2(SIM1):c.544-15A>C rs3734353
NM_005068.2(SIM1):c.743+10C>G rs886060897
NM_005068.2(SIM1):c.804T>C (p.His268=) rs761256648
NM_005068.2(SIM1):c.804T>G (p.His268Gln) rs761256648
NM_005068.2(SIM1):c.816C>T (p.Cys272=) rs764549841

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