ClinVar Miner

List of variants in gene CHD8 reported as uncertain significance for autism, susceptiblity to

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu) rs374435577 0.00009
NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln) rs370062980 0.00003
NM_001170629.2(CHD8):c.2650A>G (p.Met884Val) rs373072733 0.00002
NM_001170629.2(CHD8):c.314C>T (p.Pro105Leu) rs1889555015 0.00002
NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly) rs770184277 0.00002
NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu) rs746163664 0.00001
NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr) rs565918098 0.00001
NM_001170629.2(CHD8):c.1351A>G (p.Arg451Gly) rs1435998081 0.00001
NM_001170629.2(CHD8):c.1478G>A (p.Arg493Gln) rs755646683 0.00001
NM_001170629.2(CHD8):c.1899+5G>A rs1555316496 0.00001
NM_001170629.2(CHD8):c.3331G>C (p.Glu1111Gln) rs970353812 0.00001
NM_001170629.2(CHD8):c.412G>C (p.Val138Leu) rs767023297 0.00001
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His) rs1055883888 0.00001
NM_001170629.2(CHD8):c.5372G>A (p.Arg1791Gln) rs370298280 0.00001
NM_001170629.2(CHD8):c.635G>A (p.Arg212Gln) rs771587494 0.00001
NM_001170629.2(CHD8):c.7079G>A (p.Arg2360His) rs1887513652 0.00001
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu) rs967570036 0.00001
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) rs753886912
NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)
NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg) rs1888694098
NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)
NM_001170629.2(CHD8):c.2070G>A (p.Lys690=)
NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)
NM_001170629.2(CHD8):c.2226+3G>T rs2139492445
NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)
NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)
NM_001170629.2(CHD8):c.2764G>A (p.Ala922Thr) rs1013103711
NM_001170629.2(CHD8):c.2827C>T (p.Arg943Cys)
NM_001170629.2(CHD8):c.2993A>G (p.Gln998Arg) rs765569494
NM_001170629.2(CHD8):c.3005A>T (p.Glu1002Val)
NM_001170629.2(CHD8):c.3052-11A>G rs1888218188
NM_001170629.2(CHD8):c.3389G>A (p.Arg1130His)
NM_001170629.2(CHD8):c.3479G>A (p.Arg1160His)
NM_001170629.2(CHD8):c.3766C>T (p.Arg1256Cys)
NM_001170629.2(CHD8):c.4028T>C (p.Ile1343Thr)
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp) rs752288417
NM_001170629.2(CHD8):c.4214C>T (p.Thr1405Met)
NM_001170629.2(CHD8):c.4285C>T (p.Arg1429Trp)
NM_001170629.2(CHD8):c.4592G>A (p.Arg1531His) rs192277407
NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr) rs1887944313
NM_001170629.2(CHD8):c.4973A>G (p.Glu1658Gly)
NM_001170629.2(CHD8):c.5275A>T (p.Ser1759Cys)
NM_001170629.2(CHD8):c.5621T>C (p.Phe1874Ser)
NM_001170629.2(CHD8):c.5629C>T (p.Pro1877Ser)
NM_001170629.2(CHD8):c.5653C>T (p.Arg1885Trp)
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360
NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser) rs1887663294
NM_001170629.2(CHD8):c.5837A>C (p.Asp1946Ala)
NM_001170629.2(CHD8):c.5894T>A (p.Met1965Lys)
NM_001170629.2(CHD8):c.5924C>T (p.Pro1975Leu)
NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)
NM_001170629.2(CHD8):c.6060G>C (p.Glu2020Asp)
NM_001170629.2(CHD8):c.6077T>C (p.Leu2026Pro)
NM_001170629.2(CHD8):c.6122A>G (p.Tyr2041Cys)
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del) rs150254629
NM_001170629.2(CHD8):c.6310G>A (p.Glu2104Lys)
NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)
NM_001170629.2(CHD8):c.639A>C (p.Pro213=) rs2139539459
NM_001170629.2(CHD8):c.6403G>A (p.Gly2135Arg)
NM_001170629.2(CHD8):c.6496C>T (p.Leu2166Phe) rs773908554
NM_001170629.2(CHD8):c.6532_6534del (p.Ser2179del)
NM_001170629.2(CHD8):c.6601C>T (p.Pro2201Ser)
NM_001170629.2(CHD8):c.68A>C (p.Asp23Ala)
NM_001170629.2(CHD8):c.7066-4_7066-3delinsAA
NM_001170629.2(CHD8):c.7177A>G (p.Lys2393Glu)
NM_001170629.2(CHD8):c.7182+1G>A
NM_001170629.2(CHD8):c.7182+1dup
NM_001170629.2(CHD8):c.7267C>T (p.Arg2423Ter)
NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)
NM_001170629.2(CHD8):c.7474C>T (p.Leu2492Phe)
NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)
NM_001170629.2(CHD8):c.7620_7631dup (p.Asp2543_Glu2544insAspAspGluAsp)
NM_001170629.2(CHD8):c.7724C>T (p.Ser2575Phe)
NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)

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