ClinVar Miner

List of variants studied for Phelan McDermid syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_033517.1(SHANK3):c.1303-280dup rs745950788
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.3883delG (p.Glu1295Argfs) rs1555910212
NM_033517.1(SHANK3):c.421C>G (p.Pro141Ala) rs397514705

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