ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005068.3(SIM1):c.*1484T>C rs886060891 0.00001
NM_005068.3(SIM1):c.743+10C>G rs886060897 0.00001
NM_005068.3(SIM1):c.*1447TG[4] rs886060892
NM_005068.3(SIM1):c.-200del rs146022425

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