ClinVar Miner

List of variants in gene CHD3 reported as uncertain significance for Inborn genetic diseases

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Gene type:
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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_001005273.3(CHD3):c.4976A>G (p.Gln1659Arg) rs200096964 0.00008
NM_001005273.3(CHD3):c.4129C>T (p.Arg1377Cys) rs993747779 0.00003
NM_001005273.3(CHD3):c.4779G>A (p.Met1593Ile) rs1162732075 0.00003
NM_001005273.3(CHD3):c.4994C>T (p.Pro1665Leu) rs774001960 0.00003
NM_001005273.3(CHD3):c.1826T>G (p.Val609Gly) rs1327063144 0.00002
NM_001005273.3(CHD3):c.3209G>A (p.Arg1070Gln) rs781335877 0.00002
NM_001005273.3(CHD3):c.4775A>G (p.Lys1592Arg) rs773741525 0.00002
NM_001005273.3(CHD3):c.124C>T (p.Pro42Ser) rs1181115184 0.00001
NM_001005273.3(CHD3):c.1904G>A (p.Arg635His) rs770374165 0.00001
NM_001005273.3(CHD3):c.2597C>T (p.Thr866Ile) rs1254844078 0.00001
NM_001005273.3(CHD3):c.349C>T (p.Arg117Trp) rs1379712009 0.00001
NM_001005273.3(CHD3):c.3736_3738del (p.Lys1246del) rs1442604915 0.00001
NM_001005273.3(CHD3):c.384G>A (p.Lys128=) rs778494683 0.00001
NM_001005273.3(CHD3):c.4496A>G (p.Lys1499Arg) rs757119865 0.00001
NM_001005273.3(CHD3):c.4651T>C (p.Cys1551Arg) rs960431387 0.00001
NM_001005273.3(CHD3):c.4738G>A (p.Glu1580Lys) rs1160718822 0.00001
NM_001005273.3(CHD3):c.4804C>T (p.Pro1602Ser) rs747936150 0.00001
NM_001005273.3(CHD3):c.4817T>C (p.Leu1606Pro) rs771147785 0.00001
NM_001005273.3(CHD3):c.4861G>A (p.Val1621Met) rs1281078302 0.00001
NM_001005273.3(CHD3):c.4987G>C (p.Glu1663Gln) rs760647788 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001005273.3(CHD3):c.5773T>C (p.Tyr1925His) rs774924497 0.00001
NM_001005273.3(CHD3):c.5977G>A (p.Gly1993Arg) rs777405455 0.00001
NM_001005273.3(CHD3):c.1430C>G (p.Ser477Cys)
NM_001005273.3(CHD3):c.1441C>T (p.His481Tyr) rs1362499401
NM_001005273.3(CHD3):c.1456C>T (p.Pro486Ser) rs2544832838
NM_001005273.3(CHD3):c.152A>G (p.Lys51Arg) rs1968545852
NM_001005273.3(CHD3):c.1604A>C (p.Asp535Ala)
NM_001005273.3(CHD3):c.1663G>T (p.Val555Leu) rs2544843274
NM_001005273.3(CHD3):c.1790C>T (p.Ser597Phe)
NM_001005273.3(CHD3):c.2020G>A (p.Glu674Lys) rs2544895150
NM_001005273.3(CHD3):c.2131C>G (p.Pro711Ala) rs1232466883
NM_001005273.3(CHD3):c.2135G>T (p.Ser712Ile) rs771984924
NM_001005273.3(CHD3):c.2143A>G (p.Thr715Ala)
NM_001005273.3(CHD3):c.2185A>G (p.Ile729Val)
NM_001005273.3(CHD3):c.2275C>A (p.Leu759Ile)
NM_001005273.3(CHD3):c.2467C>T (p.Arg823Trp) rs1970056398
NM_001005273.3(CHD3):c.2507A>G (p.Asn836Ser)
NM_001005273.3(CHD3):c.253C>T (p.Arg85Trp) rs745992945
NM_001005273.3(CHD3):c.2564T>A (p.Phe855Tyr)
NM_001005273.3(CHD3):c.275G>A (p.Gly92Asp) rs569669003
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln) rs1555611692
NM_001005273.3(CHD3):c.2905A>G (p.Lys969Glu) rs1555611694
NM_001005273.3(CHD3):c.3005G>A (p.Arg1002Gln)
NM_001005273.3(CHD3):c.3109G>T (p.Val1037Leu)
NM_001005273.3(CHD3):c.3191T>C (p.Leu1064Pro) rs2544967961
NM_001005273.3(CHD3):c.3233G>A (p.Arg1078Gln) rs2544968917
NM_001005273.3(CHD3):c.3419G>A (p.Gly1140Asp) rs1555612459
NM_001005273.3(CHD3):c.376G>A (p.Gly126Arg)
NM_001005273.3(CHD3):c.3771T>G (p.Asn1257Lys)
NM_001005273.3(CHD3):c.3796C>T (p.Arg1266Trp)
NM_001005273.3(CHD3):c.3905T>C (p.Ile1302Thr)
NM_001005273.3(CHD3):c.4067A>C (p.Asp1356Ala) rs2545032933
NM_001005273.3(CHD3):c.4078C>G (p.Gln1360Glu) rs2545045212
NM_001005273.3(CHD3):c.4181A>G (p.Lys1394Arg) rs1332216527
NM_001005273.3(CHD3):c.4244G>A (p.Arg1415His) rs2545062290
NM_001005273.3(CHD3):c.4454G>A (p.Arg1485His) rs775142325
NM_001005273.3(CHD3):c.445C>T (p.His149Tyr) rs1323386037
NM_001005273.3(CHD3):c.4743A>C (p.Glu1581Asp)
NM_001005273.3(CHD3):c.4801A>G (p.Ser1601Gly)
NM_001005273.3(CHD3):c.4825C>T (p.Arg1609Trp)
NM_001005273.3(CHD3):c.4937C>T (p.Thr1646Met)
NM_001005273.3(CHD3):c.4985G>C (p.Arg1662Thr)
NM_001005273.3(CHD3):c.5026+1G>A rs1387145214
NM_001005273.3(CHD3):c.5054G>A (p.Arg1685Gln) rs763890842
NM_001005273.3(CHD3):c.5078G>A (p.Arg1693Gln)
NM_001005273.3(CHD3):c.5090G>A (p.Arg1697Gln) rs61738372
NM_001005273.3(CHD3):c.5182C>T (p.Arg1728Trp)
NM_001005273.3(CHD3):c.5204A>G (p.Lys1735Arg)
NM_001005273.3(CHD3):c.5342A>T (p.Asn1781Ile)
NM_001005273.3(CHD3):c.5435G>A (p.Arg1812Gln) rs2545140450
NM_001005273.3(CHD3):c.5465C>T (p.Pro1822Leu)
NM_001005273.3(CHD3):c.5476G>A (p.Ala1826Thr) rs1971348423
NM_001005273.3(CHD3):c.5500G>C (p.Ala1834Pro)
NM_001005273.3(CHD3):c.5562C>A (p.Asn1854Lys) rs1372453055
NM_001005273.3(CHD3):c.5630C>T (p.Ala1877Val) rs1971508067
NM_001005273.3(CHD3):c.5671C>A (p.Pro1891Thr)
NM_001005273.3(CHD3):c.5716C>T (p.Arg1906Trp)
NM_001005273.3(CHD3):c.5717G>A (p.Arg1906Gln)
NM_001005273.3(CHD3):c.5754G>A (p.Pro1918=) rs2545174190
NM_001005273.3(CHD3):c.5786C>A (p.Pro1929Gln) rs561278276
NM_001005273.3(CHD3):c.5861C>G (p.Pro1954Arg) rs779318804
NM_001005273.3(CHD3):c.5914A>G (p.Lys1972Glu)
NM_001005273.3(CHD3):c.5941G>A (p.Val1981Met) rs1248531611
NM_001005273.3(CHD3):c.691G>A (p.Ala231Thr)
NM_001005273.3(CHD3):c.718C>A (p.Pro240Thr) rs138264899
NM_001005273.3(CHD3):c.739G>A (p.Ala247Thr) rs1489328006
NM_001005273.3(CHD3):c.757C>T (p.Pro253Ser) rs2544788851

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