ClinVar Miner

List of variants in gene CHD2 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.2049A>G (p.Glu683=) rs4777755 0.77324
NM_001271.4(CHD2):c.2718A>G (p.Gln906=) rs11074121 0.75493
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=) rs12906163 0.28315
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=) rs2272457 0.23362
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=) rs34315566 0.04350
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala) rs56227200 0.02390
NM_001271.4(CHD2):c.3596-20G>A rs78359469 0.02014
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=) rs76621355 0.00866
NM_001271.4(CHD2):c.693-20C>T rs141271290 0.00778
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014 0.00698
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001271.4(CHD2):c.4138-6T>C rs182330071 0.00325
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_001271.4(CHD2):c.330G>A (p.Arg110=) rs138626801 0.00140
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554 0.00078
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu) rs370464322 0.00031
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614 0.00029
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) rs201950393 0.00029
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr) rs147466101 0.00023
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 0.00016
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=) rs201939255 0.00011
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.2703G>A (p.Ala901=) rs776453723 0.00007
NM_001271.4(CHD2):c.4458C>T (p.Leu1486=) rs772169751 0.00004
NM_001271.4(CHD2):c.987A>G (p.Gln329=) rs758605280 0.00004
NM_001271.4(CHD2):c.1680C>T (p.Asn560=) rs368985360 0.00003
NM_001271.4(CHD2):c.1773A>G (p.Ala591=) rs370425217 0.00003
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647 0.00003
NM_001271.4(CHD2):c.4693-3T>C rs967867731 0.00003
NM_001271.4(CHD2):c.2091T>A (p.Leu697=) rs770949083 0.00002
NM_001271.4(CHD2):c.2395C>T (p.Leu799=) rs369618673 0.00002
NM_001271.4(CHD2):c.854C>T (p.Ala285Val) rs544867753 0.00002
NM_001271.4(CHD2):c.1188A>G (p.Thr396=) rs199553245 0.00001
NM_001271.4(CHD2):c.3214C>A (p.Arg1072=) rs767106034 0.00001
NM_001271.4(CHD2):c.159G>C (p.Ser53=)
NM_001271.4(CHD2):c.1617C>T (p.Val539=)
NM_001271.4(CHD2):c.2559C>T (p.Phe853=)
NM_001271.4(CHD2):c.2628G>T (p.Leu876Phe)
NM_001271.4(CHD2):c.2699G>C (p.Arg900Pro)
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3237G>A (p.Lys1079=)
NM_001271.4(CHD2):c.3303T>C (p.Ser1101=)
NM_001271.4(CHD2):c.3476A>T (p.Asp1159Val) rs2141861610
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.3902C>T (p.Thr1301Ile)
NM_001271.4(CHD2):c.3979AAG[1] (p.Lys1328del) rs1410645881
NM_001271.4(CHD2):c.4001G>A (p.Gly1334Glu)
NM_001271.4(CHD2):c.4278+4A>G
NM_001271.4(CHD2):c.4279C>G (p.Pro1427Ala)
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs) rs1555445685
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4966C>T (p.Pro1656Ser)
NM_001271.4(CHD2):c.5402C>G (p.Ser1801Ter)
NM_001271.4(CHD2):c.827-2A>G

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