ClinVar Miner

List of variants reported as uncertain significance for autism (disease) by Genetics Laboratory,Facudade de Medicina de Sao Jose do Rio Preto

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_012309.4(SHANK2):c.1197G>A (p.Ala399=) rs11237599
NM_012309.4(SHANK2):c.1289C>T (p.Ala430Val) rs113262375
NM_012309.4(SHANK2):c.1706G>A (p.Arg569His) rs146580493
NM_012309.4(SHANK2):c.1716C>T (p.Ile572=) rs782240808
NM_012309.4(SHANK2):c.1759C>T (p.Pro587Ser) rs149996975
NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) rs117843717
NM_033517.1(SHANK3):c.206A>G (p.Asp69Gly) rs1005062028
NM_033517.1(SHANK3):c.3813C>T (p.Gly1271=) rs367676023
NM_033517.1(SHANK3):c.4152C>T (p.Thr1384=) rs1264636649
NM_033517.1(SHANK3):c.4176C>G (p.Leu1392=) rs906873431
NM_033517.1(SHANK3):c.4216C>G (p.Leu1406Val) rs201973139

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