ClinVar Miner

List of variants reported as likely pathogenic for Autism spectrum disorder

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys) rs76187047 0.01292
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter) rs201037487 0.00004
NM_001059.3(TACR3):c.692C>T (p.Thr231Ile) rs764659822 0.00003
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_152722.5(HEPACAM):c.803+1G>A rs375712202 0.00001
10q21.3duplication
16q24.1duplication
1q41 duplication
20p12.1duplication
2q14.3duplication
2q24.3deletion
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
8q24.13duplication
8q24.3duplication
GRCh38/hg38 17p13.3(chr17:2500691-2687314)
GRCh38/hg38 2p16.3(chr2:50590007-50802034)
GRCh38/hg38 5q23.1(chr5:119555413-119745470)
GRCh38/hg38 Xq28(chrX:152819425-152869723)
NC_000002.12:g.(?_1852302)_(2191394_?)dup
NC_000016.10:g.(?_29390980)_(30215610_?)dup
NC_000016.10:g.(?_29506378)_(30180574_?)del
NC_000016.10:g.(?_29506378)_(30180574_?)dup
NC_000016.10:g.(?_29602174)_(30178709_?)dup
NC_000016.10:g.(?_29685652)_(30180586_?)dup
NC_000023.11:g.(?_80671287)_(80671570_?)dup
NM_000314.8(PTEN):c.-116dup rs1564801388
NM_000314.8(PTEN):c.-60dup rs1564801473
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001039469.3(MARK2):c.1514+2T>G
NM_001039469.3(MARK2):c.1516dup (p.Leu506fs)
NM_001039469.3(MARK2):c.1934+1G>A
NM_001039469.3(MARK2):c.1939_1940del (p.Leu647fs)
NM_001039469.3(MARK2):c.1990C>T (p.Arg664Ter)
NM_001039469.3(MARK2):c.211C>T (p.Arg71Ter)
NM_001039469.3(MARK2):c.2255T>C (p.Val752Ala)
NM_001039469.3(MARK2):c.2291G>C (p.Arg764Pro)
NM_001039469.3(MARK2):c.235-2A>G
NM_001039469.3(MARK2):c.239C>T (p.Ala80Val)
NM_001039469.3(MARK2):c.258_259dup (p.Thr87fs)
NM_001039469.3(MARK2):c.403G>A (p.Gly135Arg)
NM_001039469.3(MARK2):c.581T>C (p.Phe194Ser) rs1940729976
NM_001042492.3(NF1):c.1721+21dup rs762735676
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter) rs1641565884
NM_001080517.3(SETD5):c.2591dup (p.Ser865fs) rs2044336029
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs) rs1569305431
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe) rs1692190479
NM_001197104.2(KMT2A):c.10835+1G>A
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs) rs1980878343
NM_001289080.2(CNTN6):c.1492+1G>T
NM_001320.7(CSNK2B):c.72+1G>T
NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr) rs886039770
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter) rs1554301257
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001375765.1(GIGYF1):c.2052+2T>C
NM_001376.5(DYNC1H1):c.4396-1G>C
NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)
NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)
NM_001394998.1(TANC2):c.1441+1G>A rs2045256930
NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter) rs2048464266
NM_001394998.1(TANC2):c.769+1G>A rs1419550439
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter) rs1569513495
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003797.5(EED):c.767T>C (p.Met256Thr)
NM_005215.4(DCC):c.617A>T (p.Asp206Val)
NM_005445.4(SMC3):c.2413C>T (p.Arg805Cys) rs760111391
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr) rs1595127294
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs) rs1686821540
NM_006321.4(ARIH2):c.1411-3C>T
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser) rs1822869930
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
NM_014141.6(CNTNAP2):c.1778-1G>C rs1396313317
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)
NM_014712.3(SETD1A):c.2981_2982del (p.Val994fs)
NM_014989.7(RIMS1):c.1679-20550G>A
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter) rs1749810683
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp) rs1653514334
NM_015151.4(DIP2A):c.1429+2T>G
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter) rs2011568558
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)
NM_016604.4(KDM3B):c.3047-1G>A
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met) rs61745597
NM_021008.4(DEAF1):c.664+2T>G rs1564950387
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)
NM_031466.8(TRAPPC9):c.-68C>T
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg) rs1922524280
NM_173569.4(UBN2):c.2024+1G>A rs1585016242
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
Single allele

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