ClinVar Miner

List of variants in gene CHD8 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.5683C>T (p.Arg1895Cys) rs200514547 0.00013
NM_001170629.2(CHD8):c.7496C>A (p.Pro2499His) rs1212151127 0.00013
NM_001170629.2(CHD8):c.7229T>C (p.Ile2410Thr) rs765016238 0.00007
NM_001170629.2(CHD8):c.338C>T (p.Ser113Leu) rs530700201 0.00004
NM_001170629.2(CHD8):c.7675A>G (p.Arg2559Gly) rs563339561 0.00004
NM_001170629.2(CHD8):c.5816G>A (p.Arg1939His) rs751815253 0.00003
NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln) rs370062980 0.00003
NM_001170629.2(CHD8):c.6344A>G (p.Tyr2115Cys) rs201035068 0.00003
NM_001170629.2(CHD8):c.6373A>G (p.Met2125Val) rs377109513 0.00003
NM_001170629.2(CHD8):c.7490A>C (p.His2497Pro) rs866434305 0.00003
NM_001170629.2(CHD8):c.1477C>T (p.Arg493Trp) rs774630592 0.00002
NM_001170629.2(CHD8):c.1562C>T (p.Thr521Ile) rs779470673 0.00002
NM_001170629.2(CHD8):c.2650A>G (p.Met884Val) rs373072733 0.00002
NM_001170629.2(CHD8):c.4462G>C (p.Val1488Leu) rs754553508 0.00002
NM_001170629.2(CHD8):c.-1G>A rs375043337 0.00001
NM_001170629.2(CHD8):c.21T>G (p.Asp7Glu) rs769940681 0.00001
NM_001170629.2(CHD8):c.3275G>A (p.Arg1092His) rs1215755967 0.00001
NM_001170629.2(CHD8):c.5224G>T (p.Gly1742Cys) rs1405068764 0.00001
NM_001170629.2(CHD8):c.5372G>A (p.Arg1791Gln) rs370298280 0.00001
NM_001170629.2(CHD8):c.5390+6A>G rs778452195 0.00001
NM_001170629.2(CHD8):c.6206C>T (p.Ser2069Leu) rs200858701 0.00001
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062 0.00001
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys) rs371294659 0.00001
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu) rs967570036 0.00001
NM_001170629.2(CHD8):c.7G>A (p.Asp3Asn) rs778721199 0.00001
NM_001170629.2(CHD8):c.1339G>C (p.Glu447Gln)
NM_001170629.2(CHD8):c.1343A>G (p.Glu448Gly) rs1566443647
NM_001170629.2(CHD8):c.158G>C (p.Gly53Ala)
NM_001170629.2(CHD8):c.1691G>C (p.Arg564Pro)
NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)
NM_001170629.2(CHD8):c.1829C>G (p.Pro610Arg) rs1566433762
NM_001170629.2(CHD8):c.1848A>T (p.Glu616Asp) rs1566433722
NM_001170629.2(CHD8):c.1952G>A (p.Arg651Gln)
NM_001170629.2(CHD8):c.200T>A (p.Val67Asp)
NM_001170629.2(CHD8):c.236C>G (p.Ser79Cys)
NM_001170629.2(CHD8):c.2432T>C (p.Leu811Pro)
NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp) rs1057518651
NM_001170629.2(CHD8):c.2455G>A (p.Val819Ile)
NM_001170629.2(CHD8):c.2812C>T (p.Arg938Cys)
NM_001170629.2(CHD8):c.28G>T (p.Asp10Tyr) rs767231058
NM_001170629.2(CHD8):c.2979_2981del (p.Phe993del) rs1555315345
NM_001170629.2(CHD8):c.3021G>C (p.Lys1007Asn)
NM_001170629.2(CHD8):c.3305A>G (p.Asn1102Ser) rs369247427
NM_001170629.2(CHD8):c.3356T>C (p.Ile1119Thr)
NM_001170629.2(CHD8):c.3370C>A (p.His1124Asn)
NM_001170629.2(CHD8):c.3503A>G (p.Tyr1168Cys)
NM_001170629.2(CHD8):c.3580C>T (p.Arg1194Cys)
NM_001170629.2(CHD8):c.372G>C (p.Lys124Asn)
NM_001170629.2(CHD8):c.410G>T (p.Gly137Val)
NM_001170629.2(CHD8):c.4217G>A (p.Arg1406His) rs770193381
NM_001170629.2(CHD8):c.4286G>A (p.Arg1429Gln)
NM_001170629.2(CHD8):c.4292G>A (p.Arg1431His)
NM_001170629.2(CHD8):c.4297C>T (p.Arg1433Cys)
NM_001170629.2(CHD8):c.4298G>A (p.Arg1433His)
NM_001170629.2(CHD8):c.4385G>A (p.Arg1462Gln)
NM_001170629.2(CHD8):c.4807G>A (p.Ala1603Thr)
NM_001170629.2(CHD8):c.4840G>A (p.Val1614Ile)
NM_001170629.2(CHD8):c.4843G>C (p.Val1615Leu)
NM_001170629.2(CHD8):c.4921+4C>T
NM_001170629.2(CHD8):c.4985G>A (p.Arg1662Gln)
NM_001170629.2(CHD8):c.5045T>G (p.Val1682Gly)
NM_001170629.2(CHD8):c.5348C>T (p.Ala1783Val)
NM_001170629.2(CHD8):c.536A>G (p.Gln179Arg)
NM_001170629.2(CHD8):c.5374C>T (p.Arg1792Trp)
NM_001170629.2(CHD8):c.5390+5A>G
NM_001170629.2(CHD8):c.5489G>A (p.Arg1830His)
NM_001170629.2(CHD8):c.5576G>A (p.Arg1859His)
NM_001170629.2(CHD8):c.5600-4G>A
NM_001170629.2(CHD8):c.5622C>A (p.Phe1874Leu)
NM_001170629.2(CHD8):c.5653C>T (p.Arg1885Trp)
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360
NM_001170629.2(CHD8):c.5684G>A (p.Arg1895His)
NM_001170629.2(CHD8):c.5782C>T (p.Arg1928Trp)
NM_001170629.2(CHD8):c.5818C>T (p.His1940Tyr)
NM_001170629.2(CHD8):c.5876C>T (p.Ala1959Val)
NM_001170629.2(CHD8):c.5956C>G (p.His1986Asp)
NM_001170629.2(CHD8):c.5975G>A (p.Arg1992His)
NM_001170629.2(CHD8):c.6190G>A (p.Glu2064Lys) rs779756082
NM_001170629.2(CHD8):c.6220G>A (p.Asp2074Asn)
NM_001170629.2(CHD8):c.6398A>T (p.Glu2133Val)
NM_001170629.2(CHD8):c.6472C>T (p.Arg2158Cys)
NM_001170629.2(CHD8):c.649A>C (p.Ile217Leu) rs771079174
NM_001170629.2(CHD8):c.6575G>A (p.Gly2192Glu)
NM_001170629.2(CHD8):c.6670A>G (p.Met2224Val)
NM_001170629.2(CHD8):c.6722A>G (p.Lys2241Arg)
NM_001170629.2(CHD8):c.6731G>A (p.Arg2244Gln)
NM_001170629.2(CHD8):c.70A>G (p.Ser24Gly)
NM_001170629.2(CHD8):c.710G>A (p.Arg237His)
NM_001170629.2(CHD8):c.7110A>T (p.Lys2370Asn)
NM_001170629.2(CHD8):c.7113TAA[1] (p.Asn2372del) rs1395958904
NM_001170629.2(CHD8):c.7177A>G (p.Lys2393Glu)
NM_001170629.2(CHD8):c.7199C>T (p.Thr2400Met)
NM_001170629.2(CHD8):c.7210C>G (p.Arg2404Gly)
NM_001170629.2(CHD8):c.7255G>A (p.Ala2419Thr)
NM_001170629.2(CHD8):c.7259G>A (p.Arg2420His)
NM_001170629.2(CHD8):c.731C>T (p.Pro244Leu)
NM_001170629.2(CHD8):c.7436G>A (p.Gly2479Asp)
NM_001170629.2(CHD8):c.7445C>T (p.Ser2482Leu)
NM_001170629.2(CHD8):c.7588C>G (p.Arg2530Gly)
NM_001170629.2(CHD8):c.7621G>A (p.Asp2541Asn)
NM_001170629.2(CHD8):c.7733A>G (p.Asp2578Gly)
NM_001170629.2(CHD8):c.844-8_844-4del
NM_001170629.2(CHD8):c.881C>A (p.Pro294Gln)
NM_001170629.2(CHD8):c.90_92dup (p.Gln30_Asp31insGlu)

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