ClinVar Miner

List of variants studied for Phelan-McDermid syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1113-8C>T rs9628236 0.00917
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772

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