ClinVar Miner

List of variants in gene CHD7 reported as likely pathogenic for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His) rs765943226 0.00001
NM_017780.4(CHD7):c.-15G>A
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.186_190dup (p.Thr64fs)
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.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.2487_2488insCCATC (p.Tyr830fs)
NM_017780.4(CHD7):c.2544del (p.Asp849fs)
NM_017780.4(CHD7):c.2546A>G (p.Asp849Gly)
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.2601_2602insACAA (p.Phe868fs)
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.2698-1G>T
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.2990T>C (p.Leu997Ser) rs2150750132
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.3201+1G>A rs1804103264
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
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.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.3302G>A (p.Cys1101Tyr) rs1554598013
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)
NM_017780.4(CHD7):c.3523-19A>T
NM_017780.4(CHD7):c.3523-2A>C rs2150764574
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.3751T>C (p.Cys1251Arg)
NM_017780.4(CHD7):c.3757_3778+7del
NM_017780.4(CHD7):c.378C>A (p.Tyr126Ter) rs1563559596
NM_017780.4(CHD7):c.3818del (p.His1273fs)
NM_017780.4(CHD7):c.3937T>C (p.Ser1313Pro)
NM_017780.4(CHD7):c.3989+2T>G
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4034G>A (p.Arg1345His)
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.4259A>G (p.Tyr1420Cys)
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.4354-6A>G
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4533+1G>C
NM_017780.4(CHD7):c.4644+1G>T
NM_017780.4(CHD7):c.4644+5G>C
NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly) rs1804990594
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val) rs1057521078
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4853G>A (p.Trp1618Ter)
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.5050G>T (p.Gly1684Cys)
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.5211-2_5227del rs1805310101
NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys)
NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
NM_017780.4(CHD7):c.5404+2T>C
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
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.5944G>T (p.Gly1982Trp) rs1563659678
NM_017780.4(CHD7):c.5955del (p.Phe1985fs)
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.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.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6369CTT[1] (p.Phe2124del)
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.6776-1G>A
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.7504dup (p.Leu2502fs)
NM_017780.4(CHD7):c.7593dup (p.Thr2532fs) rs1805743392
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
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.7971+1G>T rs1554606274
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter)
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577

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