ClinVar Miner

List of variants in gene CHD2 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767 0.00281
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954 0.00267
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126 0.00262
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_001271.4(CHD2):c.2730A>T (p.Val910=) rs77895180 0.00172
NM_001271.4(CHD2):c.330G>A (p.Arg110=) rs138626801 0.00140
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358 0.00121
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.3552A>G (p.Ala1184=) rs144292068 0.00047
NM_001271.4(CHD2):c.4807C>T (p.Pro1603Ser) rs144395162 0.00039
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614 0.00029
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg) rs146655995 0.00029
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) rs201950393 0.00029
NM_001271.4(CHD2):c.3315G>A (p.Thr1105=) rs138979360 0.00026
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr) rs147466101 0.00023
NM_001271.4(CHD2):c.1017G>A (p.Glu339=) rs141957556 0.00021
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_001271.4(CHD2):c.4009-4C>T rs376566234 0.00017
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798 0.00016
NM_001271.4(CHD2):c.551+5A>C rs376498798 0.00016
NM_001271.4(CHD2):c.4485G>A (p.Val1495=) rs143356457 0.00014
NM_001271.4(CHD2):c.4533C>T (p.Asp1511=) rs141821906 0.00011
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=) rs201939255 0.00011
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser) rs143431217 0.00010
NM_001271.4(CHD2):c.1116G>A (p.Glu372=) rs147482358 0.00009
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
NM_001271.4(CHD2):c.153C>T (p.Ser51=) rs201752698 0.00006
NM_001271.4(CHD2):c.261C>G (p.Ala87=) rs367968143 0.00006
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr) rs780701076 0.00006
NM_001271.4(CHD2):c.5050C>T (p.His1684Tyr) rs746849506 0.00006
NM_001271.4(CHD2):c.1474C>T (p.Leu492=) rs139149362 0.00004
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln) rs143503275 0.00004
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_001271.4(CHD2):c.4458C>T (p.Leu1486=) rs772169751 0.00004
NM_001271.4(CHD2):c.516A>G (p.Gln172=) rs770631510 0.00004
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=) rs766244767 0.00004
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His) rs140365508 0.00004
NM_001271.4(CHD2):c.1155T>A (p.Ala385=) rs374640261 0.00003
NM_001271.4(CHD2):c.1773A>G (p.Ala591=) rs370425217 0.00003
NM_001271.4(CHD2):c.2769G>A (p.Glu923=) rs755268343 0.00003
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647 0.00003
NM_001271.4(CHD2):c.4584C>G (p.Leu1528=) rs543526502 0.00003
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727 0.00002
NM_001271.4(CHD2):c.5370C>T (p.Pro1790=) rs756324303 0.00002
NM_001271.4(CHD2):c.595C>T (p.Arg199Cys) rs764705223 0.00002
NM_001271.4(CHD2):c.699A>G (p.Lys233=) rs201178956 0.00002
NM_001271.4(CHD2):c.1188A>G (p.Thr396=) rs199553245 0.00001
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu) rs372219984 0.00001
NM_001271.4(CHD2):c.1770C>T (p.Asn590=) rs149947056 0.00001
NM_001271.4(CHD2):c.2874C>T (p.Ser958=) rs1233633116 0.00001
NM_001271.4(CHD2):c.3592G>A (p.Glu1198Lys) rs757981280 0.00001
NM_001271.4(CHD2):c.3614G>A (p.Arg1205Lys) rs559187972 0.00001
NM_001271.4(CHD2):c.3690G>A (p.Glu1230=) rs113077918 0.00001
NM_001271.4(CHD2):c.3867G>A (p.Glu1289=) rs1358081390 0.00001
NM_001271.4(CHD2):c.4800C>T (p.Asn1600=) rs748452670 0.00001
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469 0.00001
NM_001271.4(CHD2):c.5184C>T (p.Ser1728=) rs781575273 0.00001
NM_001271.4(CHD2):c.594G>C (p.Gln198His) rs374064833 0.00001
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803 0.00001
NM_001271.4(CHD2):c.677C>T (p.Ala226Val) rs1379301229 0.00001
NM_001271.4(CHD2):c.918G>A (p.Gln306=) rs373093638 0.00001
NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)
NM_001271.4(CHD2):c.1233C>G (p.Pro411=)
NM_001271.4(CHD2):c.1599T>C (p.Tyr533=)
NM_001271.4(CHD2):c.1734A>G (p.Glu578=) rs762612275
NM_001271.4(CHD2):c.210A>C (p.Ser70=) rs1567126992
NM_001271.4(CHD2):c.225C>T (p.Ser75=) rs144667627
NM_001271.4(CHD2):c.2337A>C (p.Gly779=) rs138084718
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg) rs372801085
NM_001271.4(CHD2):c.2595C>T (p.Leu865=)
NM_001271.4(CHD2):c.2628G>A (p.Leu876=)
NM_001271.4(CHD2):c.2715T>C (p.Gly905=) rs1567149966
NM_001271.4(CHD2):c.2851C>T (p.Leu951=)
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3453A>G (p.Glu1151=)
NM_001271.4(CHD2):c.3546G>A (p.Val1182=)
NM_001271.4(CHD2):c.3613A>C (p.Arg1205=)
NM_001271.4(CHD2):c.4015T>C (p.Leu1339=) rs764733107
NM_001271.4(CHD2):c.477A>G (p.Glu159=) rs2141773476
NM_001271.4(CHD2):c.5229A>C (p.Arg1743=)
NM_001271.4(CHD2):c.5280C>T (p.Asp1760=)
NM_001271.4(CHD2):c.813G>A (p.Leu271=) rs907174346
NM_001271.4(CHD2):c.954C>T (p.His318=)

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