ClinVar Miner

List of variants studied for Phelan McDermid syndrome

Included ClinVar conditions (2):
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Total variants: 19
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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.1010C>G (p.Thr337Ser) rs869312715
NM_033517.1(SHANK3):c.1030G>T (p.Val344Leu) rs1057519406
NM_033517.1(SHANK3):c.1305-532dup rs745950788
NM_033517.1(SHANK3):c.2265+1G>A rs1396379503
NM_033517.1(SHANK3):c.2908G>T (p.Ala970Ser) rs530255181
NM_033517.1(SHANK3):c.317A>C (p.Gln106Pro) rs1555905307
NM_033517.1(SHANK3):c.3623del (p.Gly1208fs) rs1569115756
NM_033517.1(SHANK3):c.3627C>T (p.Leu1209=) rs753765611
NM_033517.1(SHANK3):c.3637dup (p.His1213fs) rs1555910162
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_033517.1(SHANK3):c.3883delG (p.Glu1295Argfs) rs1555910212
NM_033517.1(SHANK3):c.4029_4030del (p.Ser1343fs) rs1057519395
NM_033517.1(SHANK3):c.421C>G (p.Pro141Ala) rs397514705
NM_033517.1(SHANK3):c.815A>G (p.Tyr272Cys) rs1555905749

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