ClinVar Miner

List of variants reported as pathogenic for Phelan McDermid syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)
GRCh37/hg19 22q13.33(chr22:51123491-51144365)
GRCh37/hg19 22q13.33(chr22:51132804-51144365)
NM_033517.1(SHANK3):c.3637dupC (p.His1213Profs) rs1555910162
NM_033517.1(SHANK3):c.3679del (p.Ala1227Profs) rs762292772
NM_033517.1(SHANK3):c.3679dupG (p.Ala1227Glyfs) rs762292772
NM_033517.1(SHANK3):c.3883delG (p.Glu1295Argfs) rs1555910212
NM_033517.1(SHANK3):c.4029_4030del (p.Ser1343Argfs) rs1057519395
NM_033517.1(SHANK3):c.421C>G (p.Pro141Ala) rs397514705
NM_033517.1:c.3623delG

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