ClinVar Miner

List of variants studied for autism, susceptiblity to by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_181332.3(NLGN4X):c.2084C>T (p.Ala695Val) rs1200279731 0.00001
NM_001170629.2(CHD8):c.1601+5G>A rs2139531134
NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)
NM_001170629.2(CHD8):c.3299T>C (p.Leu1100Pro)
NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter) rs1888108124
NM_001170629.2(CHD8):c.4611del (p.Lys1537_Val1538insTer) rs1555314317
NM_006593.4(TBR1):c.412_413dup (p.Ile139fs)
NM_006593.4(TBR1):c.691A>G (p.Arg231Gly)
NM_012309.5(SHANK2):c.2593C>T (p.Gln865Ter) rs2135739220
NM_012309.5(SHANK2):c.3953_3958delinsGC (p.Thr1318fs)
NM_012309.5(SHANK2):c.4925C>T (p.Pro1642Leu) rs1555152736
NM_012309.5(SHANK2):c.993dup (p.Asn332fs)
NM_173495.3(PTCHD1):c.113T>A (p.Leu38Gln) rs1135401941
NM_173495.3(PTCHD1):c.1930del (p.Ala644fs)

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