ClinVar Miner

List of variants reported as uncertain significance for autism spectrum disorder by New York Genome Center

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr)
NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys)
NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln)
NM_001077242.2(DEPDC7):c.763A>T (p.Lys255Ter)
NM_001145358.2(SIN3A):c.1159G>A (p.Val387Met)
NM_001148.6(ANK2):c.9905C>G (p.Ser3302Cys)
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His)
NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr)
NM_001270.4(CHD1):c.3113G>T (p.Arg1038Ile)
NM_001330195.2(NRXN3):c.2033C>T (p.Thr678Ile)
NM_001356.5(DDX3X):c.285-12T>A
NM_001375524.1(TRRAP):c.6149C>T (p.Ser2050Leu)
NM_002830.4(PTPN4):c.2491C>A (p.Leu831Ile)
NM_003491.4(NAA10):c.472-38C>G
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val)
NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)
NM_006852.6(TLK2):c.1648A>T (p.Met550Leu)
NM_007118.4(TRIO):c.8383T>C (p.Phe2795Leu)
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln) rs777992018
NM_014932.5(NLGN1):c.2472G>A (p.Ter824=)
NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)
NM_015080.4(NRXN2):c.3254G>A (p.Arg1085His)
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln)
NM_018897.3(DNAH7):c.3025C>T (p.Arg1009Ter)
NM_019066.5(MAGEL2):c.717G>A (p.Met239Ile)
NM_031303.3(KATNAL2):c.523C>T (p.His175Tyr)
NM_032108.4(SEMA6B):c.1153T>C (p.Tyr385His)
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp)
NM_138576.4(BCL11B):c.1858C>T (p.Arg620Cys)
NM_170606.3(KMT2C):c.12704T>G (p.Ile4235Ser)

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