ClinVar Miner

List of variants in gene CHD2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.753A>G (p.Glu251=) rs368486032 0.00009
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320 0.00006
NM_001271.4(CHD2):c.1170A>G (p.Lys390=) rs1342167975 0.00002
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser) rs373555806 0.00002
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe) rs893203290 0.00002
NM_001271.4(CHD2):c.5017C>T (p.His1673Tyr) rs190569275 0.00002
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727 0.00002
NM_001271.4(CHD2):c.5341C>G (p.His1781Asp) rs771637309 0.00002
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153 0.00002
NM_001271.4(CHD2):c.1052+14C>G rs146319346 0.00001
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu) rs1064794584 0.00001
NM_001271.4(CHD2):c.1582C>G (p.His528Asp) rs776364124 0.00001
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) rs1060503518 0.00001
NM_001271.4(CHD2):c.185G>A (p.Ser62Asn) rs886041165 0.00001
NM_001271.4(CHD2):c.191C>T (p.Ser64Leu) rs759974626 0.00001
NM_001271.4(CHD2):c.2352+3A>G rs2053846534 0.00001
NM_001271.4(CHD2):c.2568T>A (p.Asp856Glu) rs770126779 0.00001
NM_001271.4(CHD2):c.2740C>T (p.Arg914Cys) rs1488275340 0.00001
NM_001271.4(CHD2):c.2843G>A (p.Arg948Gln) rs1158357314 0.00001
NM_001271.4(CHD2):c.2846C>T (p.Thr949Met) rs1064794542 0.00001
NM_001271.4(CHD2):c.3151C>G (p.Gln1051Glu) rs888718300 0.00001
NM_001271.4(CHD2):c.3538A>G (p.Ser1180Gly) rs759269259 0.00001
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu) rs1273405855 0.00001
NM_001271.4(CHD2):c.3898G>C (p.Glu1300Gln) rs778616562 0.00001
NM_001271.4(CHD2):c.3988G>T (p.Ala1330Ser) rs1596447856 0.00001
NM_001271.4(CHD2):c.4137+5G>A rs762703910 0.00001
NM_001271.4(CHD2):c.4144G>A (p.Gly1382Ser) rs1472548207 0.00001
NM_001271.4(CHD2):c.4541C>T (p.Ala1514Val) rs779865037 0.00001
NM_001271.4(CHD2):c.4559A>T (p.Tyr1520Phe) rs1443730022 0.00001
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn) rs748829883 0.00001
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469 0.00001
NM_001271.4(CHD2):c.5154-3C>A rs924030126 0.00001
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys) rs767099765 0.00001
NM_001271.4(CHD2):c.5335C>G (p.Pro1779Ala) rs374271060 0.00001
NM_001271.4(CHD2):c.5362C>T (p.Arg1788Cys) rs759259416 0.00001
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu) rs377701152 0.00001
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803 0.00001
NM_001271.4(CHD2):c.667C>T (p.Arg223Cys) rs200830337 0.00001
NM_001271.4(CHD2):c.668G>A (p.Arg223His) rs1041959719 0.00001
NM_001271.4(CHD2):c.871G>A (p.Asp291Asn) rs201819533 0.00001
GRCh37/hg19 15q26.1(chr15:93383740-93500862)x3
GRCh37/hg19 15q26.1(chr15:93392804-93540230)x3
NM_001271.4(CHD2):c.1015G>A (p.Glu339Lys)
NM_001271.4(CHD2):c.1108G>C (p.Ala370Pro) rs1369387001
NM_001271.4(CHD2):c.1152A>G (p.Ile384Met)
NM_001271.4(CHD2):c.1199-12T>A rs1474100681
NM_001271.4(CHD2):c.1199-8T>A
NM_001271.4(CHD2):c.1243T>C (p.Cys415Arg) rs1596399282
NM_001271.4(CHD2):c.1297A>C (p.Ile433Leu)
NM_001271.4(CHD2):c.1497G>C (p.Trp499Cys)
NM_001271.4(CHD2):c.1540G>C (p.Gly514Arg)
NM_001271.4(CHD2):c.1546A>G (p.Thr516Ala)
NM_001271.4(CHD2):c.1590C>T (p.His530=)
NM_001271.4(CHD2):c.1691A>T (p.Tyr564Phe) rs2141811685
NM_001271.4(CHD2):c.1724G>A (p.Arg575Gln) rs2141814810
NM_001271.4(CHD2):c.1749A>C (p.Gln583His) rs1064796220
NM_001271.4(CHD2):c.1757G>A (p.Arg586Lys) rs2141814855
NM_001271.4(CHD2):c.1850A>G (p.Asp617Gly) rs1064794545
NM_001271.4(CHD2):c.1931T>C (p.Ile644Thr) rs1555440889
NM_001271.4(CHD2):c.1994C>A (p.Pro665Gln) rs773901289
NM_001271.4(CHD2):c.2008T>A (p.Phe670Ile) rs2141830606
NM_001271.4(CHD2):c.2011T>C (p.Trp671Arg)
NM_001271.4(CHD2):c.205G>C (p.Glu69Gln)
NM_001271.4(CHD2):c.207A>T (p.Glu69Asp)
NM_001271.4(CHD2):c.214G>T (p.Gly72Cys)
NM_001271.4(CHD2):c.2189+4A>T
NM_001271.4(CHD2):c.2308C>T (p.Pro770Ser) rs1064794433
NM_001271.4(CHD2):c.2339A>C (p.Gln780Pro) rs2053846412
NM_001271.4(CHD2):c.2339A>T (p.Gln780Leu) rs2053846412
NM_001271.4(CHD2):c.2391C>G (p.Asp797Glu) rs2141836188
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg) rs372801085
NM_001271.4(CHD2):c.2423A>G (p.Asn808Ser) rs1064794729
NM_001271.4(CHD2):c.2497C>T (p.Pro833Ser) rs2053851835
NM_001271.4(CHD2):c.2505+4A>G rs767309501
NM_001271.4(CHD2):c.2543A>G (p.Gln848Arg) rs1064796424
NM_001271.4(CHD2):c.2546C>G (p.Ala849Gly) rs2141839151
NM_001271.4(CHD2):c.2647G>A (p.Val883Ile)
NM_001271.4(CHD2):c.2680G>A (p.Asp894Asn)
NM_001271.4(CHD2):c.2702C>T (p.Ala901Val) rs2141843246
NM_001271.4(CHD2):c.2759C>T (p.Thr920Ile) rs2141844210
NM_001271.4(CHD2):c.2785G>C (p.Ala929Pro) rs1064796378
NM_001271.4(CHD2):c.3215G>T (p.Arg1072Leu) rs1596436515
NM_001271.4(CHD2):c.3257A>G (p.Asp1086Gly)
NM_001271.4(CHD2):c.3365G>A (p.Ser1122Asn) rs1064794790
NM_001271.4(CHD2):c.3367G>C (p.Val1123Leu)
NM_001271.4(CHD2):c.3370C>T (p.Arg1124Trp) rs1454060267
NM_001271.4(CHD2):c.3392T>A (p.Phe1131Tyr) rs2141852043
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu) rs1555444210
NM_001271.4(CHD2):c.3497C>T (p.Ser1166Leu) rs1064794438
NM_001271.4(CHD2):c.3526C>A (p.Leu1176Met) rs1555444216
NM_001271.4(CHD2):c.3605C>T (p.Pro1202Leu)
NM_001271.4(CHD2):c.362G>T (p.Arg121Leu) rs1064795319
NM_001271.4(CHD2):c.3686T>G (p.Phe1229Cys) rs1064795362
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg) rs2054197477
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
NM_001271.4(CHD2):c.3718C>G (p.Pro1240Ala) rs1555444583
NM_001271.4(CHD2):c.3829G>A (p.Gly1277Ser) rs1596447174
NM_001271.4(CHD2):c.3833A>G (p.Tyr1278Cys) rs1596447179
NM_001271.4(CHD2):c.3886A>T (p.Ile1296Phe)
NM_001271.4(CHD2):c.3938G>A (p.Arg1313Gln) rs1131692012
NM_001271.4(CHD2):c.3949T>C (p.Leu1317=) rs1064797203
NM_001271.4(CHD2):c.3964A>G (p.Arg1322Gly) rs1555444712
NM_001271.4(CHD2):c.399G>C (p.Glu133Asp)
NM_001271.4(CHD2):c.4009-13_4009-4del
NM_001271.4(CHD2):c.4030C>G (p.Pro1344Ala) rs1228128891
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln) rs751507887
NM_001271.4(CHD2):c.4127G>A (p.Gly1376Glu)
NM_001271.4(CHD2):c.4190A>G (p.Asn1397Ser) rs2141873684
NM_001271.4(CHD2):c.4235A>G (p.Glu1412Gly) rs1064795470
NM_001271.4(CHD2):c.4238G>A (p.Gly1413Glu)
NM_001271.4(CHD2):c.4261A>G (p.Lys1421Glu)
NM_001271.4(CHD2):c.4381G>A (p.Asp1461Asn)
NM_001271.4(CHD2):c.443+4A>C
NM_001271.4(CHD2):c.444-4del rs1567132874
NM_001271.4(CHD2):c.4459G>A (p.Asp1487Asn)
NM_001271.4(CHD2):c.4466C>T (p.Pro1489Leu)
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp) rs776113114
NM_001271.4(CHD2):c.4507C>T (p.Arg1503Trp) rs764680752
NM_001271.4(CHD2):c.4523A>C (p.Lys1508Thr) rs2141881622
NM_001271.4(CHD2):c.4535G>A (p.Arg1512Gln) rs1064795397
NM_001271.4(CHD2):c.4546T>G (p.Cys1516Gly)
NM_001271.4(CHD2):c.4550T>A (p.Leu1517His) rs2141881646
NM_001271.4(CHD2):c.4553A>G (p.Lys1518Arg)
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr) rs1183987736
NM_001271.4(CHD2):c.4567C>G (p.Gln1523Glu) rs372786805
NM_001271.4(CHD2):c.4573C>G (p.His1525Asp) rs2141881675
NM_001271.4(CHD2):c.4576A>G (p.Ile1526Val)
NM_001271.4(CHD2):c.4592+37_4592+38delinsG rs2141881755
NM_001271.4(CHD2):c.4646A>G (p.His1549Arg) rs1428758251
NM_001271.4(CHD2):c.4806C>G (p.His1602Gln) rs527477898
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His) rs1427359303
NM_001271.4(CHD2):c.4860_4880del (p.Arg1621_Pro1627del)
NM_001271.4(CHD2):c.4871A>G (p.Tyr1624Cys)
NM_001271.4(CHD2):c.4891C>T (p.His1631Tyr) rs774401500
NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr) rs761860129
NM_001271.4(CHD2):c.4906+2T>G rs2141888382
NM_001271.4(CHD2):c.4907-5T>A
NM_001271.4(CHD2):c.4932A>T (p.Arg1644Ser) rs1567166830
NM_001271.4(CHD2):c.4975A>T (p.Ser1659Cys) rs2141895195
NM_001271.4(CHD2):c.5026G>A (p.Gly1676Arg) rs2141895266
NM_001271.4(CHD2):c.5039A>G (p.His1680Arg) rs2141895288
NM_001271.4(CHD2):c.5105A>C (p.Gln1702Pro) rs1064796157
NM_001271.4(CHD2):c.5105A>G (p.Gln1702Arg) rs1064796157
NM_001271.4(CHD2):c.5136C>G (p.His1712Gln)
NM_001271.4(CHD2):c.5162A>G (p.His1721Arg) rs2054568715
NM_001271.4(CHD2):c.5173C>T (p.Arg1725Trp) rs1555446665
NM_001271.4(CHD2):c.5182T>G (p.Ser1728Ala) rs1064795566
NM_001271.4(CHD2):c.5185G>T (p.Asp1729Tyr)
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001271.4(CHD2):c.5228G>A (p.Arg1743Gln) rs1230076038
NM_001271.4(CHD2):c.5246C>G (p.Pro1749Arg)
NM_001271.4(CHD2):c.5372C>A (p.Pro1791His)
NM_001271.4(CHD2):c.5393_5401dup (p.Lys1800_Ser1801insTyrSerLys)
NM_001271.4(CHD2):c.5404C>G (p.Pro1802Ala) rs2141761756
NM_001271.4(CHD2):c.59C>G (p.Ser20Trp) rs1057524801
NM_001271.4(CHD2):c.616G>C (p.Asp206His) rs2141778412
NM_001271.4(CHD2):c.620C>A (p.Ser207Tyr)
NM_001271.4(CHD2):c.62G>C (p.Ser21Thr) rs1596359879
NM_001271.4(CHD2):c.63-9_63-8insTG
NM_001271.4(CHD2):c.633TGA[3] (p.Asp215del) rs1596392521
NM_001271.4(CHD2):c.667C>G (p.Arg223Gly) rs200830337
NM_001271.4(CHD2):c.674G>T (p.Arg225Ile)
NM_001271.4(CHD2):c.702A>T (p.Glu234Asp)
NM_001271.4(CHD2):c.808A>G (p.Arg270Gly)
NM_001271.4(CHD2):c.830C>G (p.Thr277Ser) rs2141787330
NM_001271.4(CHD2):c.940T>C (p.Trp314Arg) rs2141787528
NM_001271.4(CHD2):c.983A>T (p.Gln328Leu) rs1195504144

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