ClinVar Miner

List of variants reported as pathogenic for CHARGE association by Invitae

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Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP
NC_000008.11:g.(?_60741413)_(60856908_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)del
NM_017780.4(CHD7):c.1058del (p.Phe353fs) rs1060503184
NM_017780.4(CHD7):c.1267del (p.Glu423fs)
NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter) rs1586251038
NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter) rs1554581657
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1488dup (p.Pro497fs) rs786204200
NM_017780.4(CHD7):c.1505del (p.Pro502fs) rs863224517
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs) rs1554588671
NM_017780.4(CHD7):c.1925del (p.Lys642fs) rs1554588712
NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs) rs1563595101
NM_017780.4(CHD7):c.2090del (p.Lys697fs) rs1563595385
NM_017780.4(CHD7):c.2097-1G>C rs1060503182
NM_017780.4(CHD7):c.2195dup (p.Pro733fs) rs1586341138
NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs) rs1563607193
NM_017780.4(CHD7):c.2238+1G>A
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.2295del (p.Phe765fs) rs1586350854
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs) rs1563618176
NM_017780.4(CHD7):c.2568del (p.Lys857fs) rs1060503181
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer) rs1586389286
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs) rs1586389310
NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter)
NM_017780.4(CHD7):c.2767dup (p.Asp923fs)
NM_017780.4(CHD7):c.281del (p.Pro94fs)
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.2836-1G>A rs1586389929
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) rs1586390136
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.29_30del (p.Phe10fs) rs1586247124
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys) rs1060503187
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter) rs1563636399
NM_017780.4(CHD7):c.3470del (p.Pro1157fs)
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter) rs1554599065
NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs)
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs) rs1586405367
NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro)
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017780.4(CHD7):c.3678del (p.Phe1226fs) rs863224518
NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter) rs878855032
NM_017780.4(CHD7):c.3937del (p.Ser1313fs) rs1554600538
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer) rs1586417729
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs) rs1586419497
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4353+1G>T
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) rs398124319
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.4424del (p.Glu1475fs)
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs) rs1563645417
NM_017780.4(CHD7):c.4652del (p.Leu1551fs) rs1586426486
NM_017780.4(CHD7):c.4662del (p.Asp1554fs) rs1563648905
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter)
NM_017780.4(CHD7):c.478del (p.Tyr160fs) rs1554581198
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer) rs864622455
NM_017780.4(CHD7):c.4942_4943GT[1] (p.Tyr1649fs)
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter) rs777652245
NM_017780.4(CHD7):c.5101del (p.Gln1701fs) rs1554602557
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter)
NM_017780.4(CHD7):c.5211-1G>C rs1060503180
NM_017780.4(CHD7):c.5211-2A>G
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.5330del (p.Phe1777fs)
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter)
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.5932del (p.Val1978fs)
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs) rs1131691420
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6161_6162CT[1] (p.Leu2055fs) rs1060503185
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs) rs886039528
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter) rs766862122
NM_017780.4(CHD7):c.6401del (p.Asn2134fs) rs1586446101
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) rs376056567
NM_017780.4(CHD7):c.6473del (p.Ser2158fs) rs1563660938
NM_017780.4(CHD7):c.667G>T (p.Gly223Ter)
NM_017780.4(CHD7):c.6775+1G>T
NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs)
NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs) rs1554604441
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs) rs1563662791
NM_017780.4(CHD7):c.689C>A (p.Ser230Ter)
NM_017780.4(CHD7):c.6937-2A>G rs1586451506
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter) rs878975068
NM_017780.4(CHD7):c.718del (p.Gln240fs) rs1563560493
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter) rs1320897198
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7286_7287del (p.Glu2429fs)
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter) rs1060503188
NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs) rs1586453329
NM_017780.4(CHD7):c.7663del (p.Arg2555fs) rs863224843
NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter)
NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter) rs748126701
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter) rs1586460329
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs)
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
NM_017780.4(CHD7):c.8067del (p.Lys2690fs) rs1554606375
NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs)
NM_017780.4(CHD7):c.8077-1G>C rs1586466948
NM_017780.4(CHD7):c.8077-2A>G
NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs) rs1563674316
NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs) rs1586468521
NM_017780.4(CHD7):c.889C>T (p.Gln297Ter) rs1586249808

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