ClinVar Miner

List of variants studied for autism, susceptibility to, 17

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP
NM_012309.4(SHANK2):c.1896dup (p.Asp633fs) rs1555013332
NM_012309.4(SHANK2):c.2333C>G (p.Ala778Gly) rs1555156140
NM_012309.4(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949
NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) rs117843717
NM_012309.4(SHANK2):c.3454dup (p.Glu1152fs) rs1565529155
NM_012309.4(SHANK2):c.3704A>G (p.Lys1235Arg) rs1350344796
NM_012309.4(SHANK2):c.451G>T (p.Asp151Tyr) rs967203648
NM_012309.4(SHANK2):c.4822G>A (p.Val1608Ile) rs543988574
NM_012309.4(SHANK2):c.4991T>C (p.Ile1664Thr) rs150857128
SHANK2, 120-KB DEL
SHANK2, 69-KB DEL
SHANK2, ARG462TER

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