ClinVar Miner

List of variants in gene CHD3 studied for Inborn genetic diseases

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Total variants: 58
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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.4804C>T (p.Pro1602Ser) rs747936150 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001005273.3(CHD3):c.124C>T (p.Pro42Ser)
NM_001005273.3(CHD3):c.1441C>T (p.His481Tyr)
NM_001005273.3(CHD3):c.1456C>T (p.Pro486Ser)
NM_001005273.3(CHD3):c.1619G>A (p.Arg540His)
NM_001005273.3(CHD3):c.1663G>T (p.Val555Leu)
NM_001005273.3(CHD3):c.1826T>G (p.Val609Gly)
NM_001005273.3(CHD3):c.1904G>A (p.Arg635His)
NM_001005273.3(CHD3):c.2075C>T (p.Pro692Leu)
NM_001005273.3(CHD3):c.2131C>G (p.Pro711Ala)
NM_001005273.3(CHD3):c.2327A>G (p.Tyr776Cys)
NM_001005273.3(CHD3):c.2344-4C>T
NM_001005273.3(CHD3):c.2467C>T (p.Arg823Trp) rs1970056398
NM_001005273.3(CHD3):c.2626C>T (p.Arg876Cys)
NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp) rs1064795892
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.2953C>T (p.Arg985Trp) rs1555611722
NM_001005273.3(CHD3):c.3032G>A (p.Gly1011Asp)
NM_001005273.3(CHD3):c.3174G>A (p.Ser1058=)
NM_001005273.3(CHD3):c.3191T>C (p.Leu1064Pro)
NM_001005273.3(CHD3):c.3209G>A (p.Arg1070Gln)
NM_001005273.3(CHD3):c.3419G>A (p.Gly1140Asp) rs1555612459
NM_001005273.3(CHD3):c.349C>T (p.Arg117Trp)
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.3(CHD3):c.384G>A (p.Lys128=)
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.3(CHD3):c.4073-1G>A
NM_001005273.3(CHD3):c.4073-1G>T rs1970772602
NM_001005273.3(CHD3):c.4078C>G (p.Gln1360Glu)
NM_001005273.3(CHD3):c.4181A>G (p.Lys1394Arg)
NM_001005273.3(CHD3):c.4244G>A (p.Arg1415His)
NM_001005273.3(CHD3):c.4496A>G (p.Lys1499Arg)
NM_001005273.3(CHD3):c.4738G>A (p.Glu1580Lys)
NM_001005273.3(CHD3):c.4817T>C (p.Leu1606Pro)
NM_001005273.3(CHD3):c.4949G>C (p.Arg1650Thr)
NM_001005273.3(CHD3):c.4950G>C (p.Arg1650Ser)
NM_001005273.3(CHD3):c.4950G>T (p.Arg1650Ser)
NM_001005273.3(CHD3):c.4951G>C (p.Gly1651Arg)
NM_001005273.3(CHD3):c.4987G>C (p.Glu1663Gln)
NM_001005273.3(CHD3):c.4994C>T (p.Pro1665Leu)
NM_001005273.3(CHD3):c.5054G>A (p.Arg1685Gln)
NM_001005273.3(CHD3):c.5090G>A (p.Arg1697Gln) rs61738372
NM_001005273.3(CHD3):c.5395-4T>C
NM_001005273.3(CHD3):c.5476G>A (p.Ala1826Thr)
NM_001005273.3(CHD3):c.5562C>A (p.Asn1854Lys)
NM_001005273.3(CHD3):c.5773T>C (p.Tyr1925His)
NM_001005273.3(CHD3):c.5786C>A (p.Pro1929Gln)
NM_001005273.3(CHD3):c.5797G>A (p.Ala1933Thr)
NM_001005273.3(CHD3):c.5833G>A (p.Ala1945Thr)
NM_001005273.3(CHD3):c.5884G>A (p.Ala1962Thr)
NM_001005273.3(CHD3):c.5941G>A (p.Val1981Met)
NM_001005273.3(CHD3):c.5972G>A (p.Arg1991Gln)
NM_001005273.3(CHD3):c.5977G>A (p.Gly1993Arg)
NM_001005273.3(CHD3):c.718C>A (p.Pro240Thr)
NM_001005273.3(CHD3):c.757C>T (p.Pro253Ser)

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