ClinVar Miner

List of variants reported as pathogenic for autism spectrum disorder

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_005215.4(DCC):c.2260G>A (p.Val754Met) rs775565634 0.00008
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963 0.00002
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg) rs751037529 0.00001
NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg) rs986702153 0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) rs750896617 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
15q11.2-12duplication
15q13.3duplication
15q25.3duplication
1q42.2deletion
22q11.21deletion
2q37.3deletion
7q31.32deletion
7q32.3duplication
7q35 duplication
9p24.1deletion
GRCh37/hg19 15q11.2(chr15:22765628-23085096)
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
GRCh37/hg19 16p11.2(chr16:29673954-30198600)
GRCh37/hg19 16p13.3(chr16:3784414-3821324)
GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)
GRCh37/hg19 22q13.33(chr22:51123491-51219009)
GRCh37/hg19 2q12.3-13(chr2:109157562-110497991)x1
GRCh37/hg19 4p16.3(chr4:374557-745174)
GRCh37/hg19 6q13(chr6:71105038-75200617)x1
GRCh37/hg19 6q21(chr6:107331934-108121759)
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
GRCh37/hg19 9p24.3(chr9:204193-340142)
GRCh37/hg19 Xp22.31(chrX:6488721-8097511)
GRCh38/hg38 15q11.2(chr15:22633497-23084434)
GRCh38/hg38 16p11.2(chr16:28825316-29028291)
GRCh38/hg38 16p13.11(chr16:15399656-16194269)
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)
GRCh38/hg38 16p13.2(chr16:8937723-10049200)
GRCh38/hg38 17q12(chr17:36466109-37946106)
GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)
NC_000002.12:g.(?_148157591)_(148226058_?)del
NC_000002.12:g.(?_50496341)_(51317388_?)del
NC_000002.12:g.(?_51001206)_(51200739_?)del
NC_000015.10:g.(?_22444190)_(23226874_?)del
NC_000015.10:g.(?_22570470)_(23226874_?)del
NC_000015.10:g.(?_22673143)_(23226874_?)del
NC_000015.10:g.(?_22751662)_(23126124_?)del
NC_000015.10:g.(?_22770232)_(23126124_?)del
NC_000015.10:g.(?_30568981)_(32151126_?)del
NC_000015.10:g.(?_30568981)_(32318632_?)del
NC_000016.10:g.(?_14757009)_(16763184_?)del
NC_000016.10:g.(?_29480853)_(30254620_?)del
NC_000017.11:g.(?_16770855)_(20585863_?)del
NC_000017.11:g.(?_36143765)_(37995300_?)del
NC_000017.11:g.(?_36446252)_(37887875_?)del
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) rs1571164333
NM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs)
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) rs121912562
NM_001032221.6(STXBP1):c.1359+1G>T rs796053370
NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)
NM_001040142.2(SCN2A):c.2229_2230del (p.Lys743fs) rs1057518658
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter) rs587784464
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001135659.3:c.(?_-921)_(931+1_932-1)del
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)
NM_001165963.4(SCN1A):c.602+1G>A
NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
NM_001170629.2(CHD8):c.2345del (p.His782fs) rs886039692
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) rs1131691548
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) rs1555318552
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) rs1950523317
NM_001271.4(CHD2):c.995_999del (p.Val332fs)
NM_001291415.2(KDM6A):c.3190dup (p.Trp1064fs)
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter) rs1282230077
NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001349338.3(FOXP1):c.1348+1G>C rs1559619762
NM_001367943.1(TCF7L2):c.1144C>T (p.Gln382Ter)
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs) rs2083275928
NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)
NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_001378418.1(TCF20):c.1810_1811del (p.Val604fs) rs1569151204
NM_001378418.1(TCF20):c.2594C>G (p.Ser865Ter) rs1569149539
NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter)
NM_001385012.1(NBEA):c.5206dup (p.Ser1736fs)
NM_002397.5(MEF2C):c.403-1G>T rs1561824498
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002585.4(PBX1):c.550C>T (p.Arg184Ter) rs1553248081
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004603.4(STX1A):c.284-1G>A rs2116737208
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
NM_012309.5(SHANK2):c.4304_4305del (p.Leu1434_Ser1435insTer) rs1565527302
NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp) rs746964903
NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe) rs2131335751
NM_016188.5(ACTL6B):c.465del (p.Ala156fs) rs2131335747
NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro) rs2131334872
NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter) rs2131333638
NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) rs1057519440
NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) rs1555740650
NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) rs1555741826
NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) rs1555740394
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs)
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_057175.5(NAA15):c.995T>G (p.Leu332Ter) rs2110935239
NM_138576.4(BCL11B):c.784_820del (p.Arg262fs)
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs) rs2093231242
NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) rs1568070621
Single allele

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