ClinVar Miner

List of variants in gene CHD7 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp) rs886063038 0.00002
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His) rs765943226 0.00001
GRCh37/hg19 8q12.2(chr8:61750227-61750394)x3
NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del
NM_017780.4(CHD7):c.1061del (p.Pro354fs) rs1554581501
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter) rs727503860
NM_017780.4(CHD7):c.1339C>T (p.Gln447Ter) rs2150580758
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.2238G>C (p.Gln746His)
NM_017780.4(CHD7):c.2352dup (p.Asn785fs)
NM_017780.4(CHD7):c.2377-1G>A rs2150711063
NM_017780.4(CHD7):c.2377-2A>G
NM_017780.4(CHD7):c.2377G>T (p.Glu793Ter)
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2442+1G>A rs1085307582
NM_017780.4(CHD7):c.2544del (p.Asp849fs)
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2613+1G>T rs587783432
NM_017780.4(CHD7):c.2613+1del rs1060503189
NM_017780.4(CHD7):c.2613G>T (p.Glu871Asp) rs2150739129
NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe) rs886039881
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) rs367557471
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer) rs1554597507
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.2958-3A>G
NM_017780.4(CHD7):c.2990T>C (p.Leu997Ser) rs2150750132
NM_017780.4(CHD7):c.3059T>C (p.Leu1020Ser) rs1057521077
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del) rs1804098493
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3149_3156delinsGTC (p.Gln1050fs)
NM_017780.4(CHD7):c.3201+1G>A rs1804103264
NM_017780.4(CHD7):c.3201+1G>T rs1804103264
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu) rs1804153455
NM_017780.4(CHD7):c.3226_3227del (p.Lys1076fs) rs1064796926
NM_017780.4(CHD7):c.3232C>T (p.His1078Tyr) rs1064795519
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) rs768184220
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) rs1804154342
NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs)
NM_017780.4(CHD7):c.3295T>C (p.Trp1099Arg) rs1586393514
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr) rs1554598013
NM_017780.4(CHD7):c.3322C>T (p.His1108Tyr) rs1064796196
NM_017780.4(CHD7):c.3378+5G>A
NM_017780.4(CHD7):c.3378+5G>T rs1554598029
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3383del (p.His1128fs) rs2150761067
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.343del (p.His115fs) rs2150577964
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)
NM_017780.4(CHD7):c.3482_3483del (p.Thr1161fs)
NM_017780.4(CHD7):c.3522+1del rs1064796255
NM_017780.4(CHD7):c.3523-19A>T
NM_017780.4(CHD7):c.3523-2A>C rs2150764574
NM_017780.4(CHD7):c.3547A>C (p.Lys1183Gln) rs1804452117
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.3616del (p.Ile1206fs) rs1804454376
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3642G>T (p.Gln1214His)
NM_017780.4(CHD7):c.3688del (p.Ser1230fs)
NM_017780.4(CHD7):c.3757_3778+7del
NM_017780.4(CHD7):c.3761A>C (p.His1254Pro) rs2150765100
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_017780.4(CHD7):c.3819_3820del (p.His1273fs)
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3937T>C (p.Ser1313Pro)
NM_017780.4(CHD7):c.3989+2T>G
NM_017780.4(CHD7):c.3990-2A>C
NM_017780.4(CHD7):c.4088T>A (p.Leu1363His) rs1064796242
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly) rs1586419356
NM_017780.4(CHD7):c.4218C>A (p.Ser1406Arg) rs1804800800
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg) rs770166812
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4354-6A>G
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys) rs2150779357
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4533G>A (p.Lys1511=) rs1064793084
NM_017780.4(CHD7):c.4644+5G>C
NM_017780.4(CHD7):c.4644+5G>T
NM_017780.4(CHD7):c.4645-1G>C
NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe) rs1586426507
NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly) rs1804990594
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly) rs1057521078
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val) rs1057521078
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)
NM_017780.4(CHD7):c.4985del (p.Ser1662fs) rs1060499937
NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter)
NM_017780.4(CHD7):c.5051_5095del (p.Gly1684_Lys1699delinsGlu) rs2150793887
NM_017780.4(CHD7):c.5210+1G>A rs2150794309
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5210+5G>C
NM_017780.4(CHD7):c.5211-2_5227del rs1805310101
NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys)
NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly)
NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.535dup (p.Ala179fs) rs2150578588
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5401C>A (p.His1801Asn) rs1131692039
NM_017780.4(CHD7):c.5404+2T>C
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.5436C>A (p.Asp1812Glu) rs1586440484
NM_017780.4(CHD7):c.5436C>G (p.Asp1812Glu)
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.5480del (p.Lys1827fs)
NM_017780.4(CHD7):c.5504_5508delinsT (p.Gly1835fs) rs1586440620
NM_017780.4(CHD7):c.5534G>A (p.Gly1845Glu)
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5744G>A (p.Arg1915Gln) rs1024600310
NM_017780.4(CHD7):c.5894+1G>T
NM_017780.4(CHD7):c.5894+5G>A rs1805486327
NM_017780.4(CHD7):c.5902AGA[1] (p.Arg1969del)
NM_017780.4(CHD7):c.5944G>T (p.Gly1982Trp) rs1563659678
NM_017780.4(CHD7):c.5955del (p.Phe1985fs)
NM_017780.4(CHD7):c.5C>A (p.Ala2Glu) rs1809000474
NM_017780.4(CHD7):c.6035A>T (p.Glu2012Val) rs1805504949
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6103+2T>C
NM_017780.4(CHD7):c.6104-2A>T rs1805513214
NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) rs1064794250
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) rs1064794250
NM_017780.4(CHD7):c.6208dup (p.His2070fs)
NM_017780.4(CHD7):c.6236del (p.Lys2079fs)
NM_017780.4(CHD7):c.6239T>C (p.Leu2080Pro) rs1064796615
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)
NM_017780.4(CHD7):c.6561T>A (p.Cys2187Ter) rs1586446578
NM_017780.4(CHD7):c.6734del (p.Leu2245fs) rs1563661595
NM_017780.4(CHD7):c.6756del (p.Glu2253fs) rs1805571443
NM_017780.4(CHD7):c.6776-1G>A
NM_017780.4(CHD7):c.6854dup (p.Asp2285fs) rs1586449004
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.709del (p.His237fs) rs1809063870
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7320del (p.Val2441fs) rs2129649243
NM_017780.4(CHD7):c.7390_7419del (p.Lys2464_Pro2473del) rs2129650387
NM_017780.4(CHD7):c.7456C>T (p.Gln2486Ter) rs1805733963
NM_017780.4(CHD7):c.7593dup (p.Thr2532fs) rs1805743392
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.7782G>A (p.Trp2594Ter) rs769587871
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.7814_7815del (p.Met2605fs) rs1805949598
NM_017780.4(CHD7):c.7971+1G>T rs1554606274
NM_017780.4(CHD7):c.8027del (p.Asn2676fs)
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_017780.4(CHD7):c.8063_8064del (p.Ile2688fs) rs1554606367
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.8094del (p.Met2699fs)
NM_017780.4(CHD7):c.830dup (p.Asn278fs) rs1809075967
NM_017780.4(CHD7):c.8580_8581insT (p.Thr2861fs)
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
Single allele rs1554581005

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