ClinVar Miner

List of variants studied for autism by New York Genome Center

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.717G>A (p.Met239Ile) rs552582918 0.00019
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln) rs563243550 0.00016
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_001077242.2(DEPDC7):c.763A>T (p.Lys255Ter) rs201199439 0.00005
NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=) rs568763160 0.00005
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln) rs777992018 0.00005
NM_138576.4(BCL11B):c.1858C>T (p.Arg620Cys) rs200835381 0.00005
NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys) rs775542349 0.00004
NM_001387690.1(KATNAL2):c.739C>T (p.His247Tyr) rs1569106508 0.00002
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu) rs768629864 0.00002
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr) rs755919316 0.00001
NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys) rs758150597 0.00001
NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln) rs762635516 0.00001
NM_001145358.2(SIN3A):c.1159G>A (p.Val387Met) rs1010772312 0.00001
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His) rs1055883888 0.00001
NM_001330195.2(NRXN3):c.2033C>T (p.Thr678Ile) rs769211538 0.00001
NM_001375524.1(TRRAP):c.6149C>T (p.Ser2050Leu) rs1791617298 0.00001
NM_006852.6(TLK2):c.1648A>T (p.Met550Leu) rs754747576 0.00001
NM_015080.4(NRXN2):c.3410C>T (p.Thr1137Ile) rs150390440 0.00001
NC_000009.12:g.73165555_73173279dup
NM_001077594.2(EXOC3L4):c.561C>G (p.Asp187Glu) rs766530029
NM_001148.6(ANK2):c.9905C>G (p.Ser3302Cys) rs2095969252
NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr) rs1887944313
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) rs1950523317
NM_001270.4(CHD1):c.3113G>T (p.Arg1038Ile) rs1750025322
NM_001356.5(DDX3X):c.285-12T>A rs2063865427
NM_002830.4(PTPN4):c.2491C>A (p.Leu831Ile) rs1679434397
NM_003491.4(NAA10):c.472-38C>G rs2065158858
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523
NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr) rs2060557128
NM_007118.4(TRIO):c.8383T>C (p.Phe2795Leu) rs944775553
NM_032108.4(SEMA6B):c.1153T>C (p.Tyr385His) rs1977288029
NM_057175.5(NAA15):c.55-2A>C
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp) rs779757878
NM_145314.3(UCMA):c.17_220+223del rs2131608474
NM_170606.3(KMT2C):c.12704T>G (p.Ile4235Ser) rs2091568246

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