ClinVar Miner

List of variants in gene CHD7, LOC126860403 studied for hypogonadotropic hypogonadism

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_017780.4(CHD7):c.1666-15A>G rs372978951 0.00035
NM_017780.4(CHD7):c.1958C>T (p.Pro653Leu) rs200536932 0.00032
NM_017780.4(CHD7):c.1737G>A (p.Gln579=) rs747922099 0.00024
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala) rs746837682 0.00007
NM_017780.4(CHD7):c.1959G>A (p.Pro653=) rs747024874 0.00005
NM_017780.4(CHD7):c.1966C>T (p.Pro656Ser) rs769003426 0.00005
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621 0.00004
NM_017780.4(CHD7):c.1920A>G (p.Glu640=) rs749214938 0.00004
NM_017780.4(CHD7):c.1677G>A (p.Ser559=) rs568348314 0.00003
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu) rs776871277 0.00003
NM_017780.4(CHD7):c.1968G>A (p.Pro656=) rs569213080 0.00003
NM_017780.4(CHD7):c.2096+11G>A rs895506618 0.00003
NM_017780.4(CHD7):c.1813C>G (p.His605Asp) rs534225918 0.00002
NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg) rs375905260 0.00002
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala) rs764518030 0.00001
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu) rs757689264 0.00001
NM_017780.4(CHD7):c.1704G>A (p.Pro568=) rs765715877 0.00001
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val) rs769625033 0.00001
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) rs764607908 0.00001
NM_017780.4(CHD7):c.1881A>G (p.Gln627=) rs751273179 0.00001
NM_017780.4(CHD7):c.1887A>G (p.Leu629=) rs1480207845 0.00001
NM_017780.4(CHD7):c.1890T>C (p.Asn630=) rs754640263 0.00001
NM_017780.4(CHD7):c.1908G>A (p.Gly636=) rs923306494 0.00001
NM_017780.4(CHD7):c.1914A>G (p.Gln638=) rs777624090 0.00001
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu) rs1335682527 0.00001
NM_017780.4(CHD7):c.1977C>T (p.Pro659=) rs886063034 0.00001
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg) rs1373820202 0.00001
NM_017780.4(CHD7):c.2013G>A (p.Pro671=) rs1361271759 0.00001
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr) rs1187193827 0.00001
NM_017780.4(CHD7):c.2063C>T (p.Ala688Val) rs759010289 0.00001
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met) rs373706363 0.00001
NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu) rs755898600 0.00001
NM_017780.4(CHD7):c.1666-16T>C
NM_017780.4(CHD7):c.1666-20T>C
NM_017780.4(CHD7):c.1666-5C>A
NM_017780.4(CHD7):c.1671C>T (p.Ser557=)
NM_017780.4(CHD7):c.1674G>A (p.Pro558=)
NM_017780.4(CHD7):c.1674G>C (p.Pro558=)
NM_017780.4(CHD7):c.1674G>T (p.Pro558=) rs763024481
NM_017780.4(CHD7):c.1676C>T (p.Ser559Leu) rs1402410171
NM_017780.4(CHD7):c.1678G>A (p.Glu560Lys)
NM_017780.4(CHD7):c.1678dup (p.Glu560fs) rs797045461
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr) rs1231245538
NM_017780.4(CHD7):c.1697del (p.Pro566fs)
NM_017780.4(CHD7):c.1698A>G (p.Pro566=) rs727503862
NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu) rs1694045574
NM_017780.4(CHD7):c.1708A>G (p.Met570Val)
NM_017780.4(CHD7):c.1716G>C (p.Gln572His)
NM_017780.4(CHD7):c.1717G>T (p.Val573Phe)
NM_017780.4(CHD7):c.1721G>A (p.Ser574Asn)
NM_017780.4(CHD7):c.1722T>G (p.Ser574Arg)
NM_017780.4(CHD7):c.1725A>G (p.Gly575=) rs2150669175
NM_017780.4(CHD7):c.1728G>A (p.Pro576=) rs754836392
NM_017780.4(CHD7):c.1735C>A (p.Gln579Lys) rs780953224
NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu)
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.1740A>G (p.Leu580=)
NM_017780.4(CHD7):c.1740_1744delinsTC (p.Val581_Lys582delinsGln) rs1554588657
NM_017780.4(CHD7):c.1748G>C (p.Ser583Thr)
NM_017780.4(CHD7):c.1751A>T (p.Asp584Val) rs1811198841
NM_017780.4(CHD7):c.1759C>T (p.Leu587=)
NM_017780.4(CHD7):c.1761G>T (p.Leu587=)
NM_017780.4(CHD7):c.1762C>T (p.Pro588Ser)
NM_017780.4(CHD7):c.1774C>A (p.Gln592Lys) rs2150669323
NM_017780.4(CHD7):c.1774_1778del (p.Gln592fs) rs2150669316
NM_017780.4(CHD7):c.1784A>T (p.Gln595Leu) rs2150669341
NM_017780.4(CHD7):c.1785A>G (p.Gln595=)
NM_017780.4(CHD7):c.1791GAA[2] (p.Lys602del) rs757119372
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg) rs1467028739
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs) rs1554588671
NM_017780.4(CHD7):c.1807_1808del (p.Asn603fs)
NM_017780.4(CHD7):c.1808_1811del (p.Asn603fs) rs1811203974
NM_017780.4(CHD7):c.1808del (p.Asn603fs)
NM_017780.4(CHD7):c.1811A>G (p.Asn604Ser) rs1811204503
NM_017780.4(CHD7):c.1812C>T (p.Asn604=)
NM_017780.4(CHD7):c.1819G>A (p.Val607Ile)
NM_017780.4(CHD7):c.1835G>A (p.Ser612Asn) rs1811206668
NM_017780.4(CHD7):c.1840G>T (p.Gly614Cys)
NM_017780.4(CHD7):c.1848del (p.Asp618fs) rs1811207509
NM_017780.4(CHD7):c.1851A>C (p.Lys617Asn)
NM_017780.4(CHD7):c.1856A>G (p.Asp619Gly) rs1375813352
NM_017780.4(CHD7):c.1861C>T (p.Pro621Ser)
NM_017780.4(CHD7):c.1862C>A (p.Pro621His) rs1229088933
NM_017780.4(CHD7):c.1865G>C (p.Gly622Ala)
NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp)
NM_017780.4(CHD7):c.1870G>A (p.Val624Ile)
NM_017780.4(CHD7):c.1871del (p.Val624fs) rs2150669574
NM_017780.4(CHD7):c.1879C>A (p.Gln627Lys)
NM_017780.4(CHD7):c.1886T>C (p.Leu629Pro)
NM_017780.4(CHD7):c.1898C>A (p.Ser633Ter)
NM_017780.4(CHD7):c.1903G>C (p.Asp635His)
NM_017780.4(CHD7):c.1918_1919delinsTT (p.Glu640Leu)
NM_017780.4(CHD7):c.1925AGAAAA[3] (p.Lys644_Lys645dup) rs1563595031
NM_017780.4(CHD7):c.1925del (p.Lys642fs) rs1554588712
NM_017780.4(CHD7):c.1928A>C (p.Lys643Thr)
NM_017780.4(CHD7):c.1931del (p.Lys644fs) rs2150669764
NM_017780.4(CHD7):c.1931dup (p.Lys645fs)
NM_017780.4(CHD7):c.1936dup (p.Arg646fs) rs2150669783
NM_017780.4(CHD7):c.1944G>C (p.Lys648Asn)
NM_017780.4(CHD7):c.1945G>A (p.Ala649Thr) rs1811215623
NM_017780.4(CHD7):c.1947A>C (p.Ala649=)
NM_017780.4(CHD7):c.1948A>G (p.Lys650Glu)
NM_017780.4(CHD7):c.1951_1952delinsT (p.Lys650_Lys651insTer) rs1563595095
NM_017780.4(CHD7):c.1952A>C (p.Lys651Thr)
NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs) rs1563595101
NM_017780.4(CHD7):c.1953dup (p.Asp652fs) rs2150669843
NM_017780.4(CHD7):c.1956C>A (p.Asp652Glu)
NM_017780.4(CHD7):c.1957C>G (p.Pro653Ala)
NM_017780.4(CHD7):c.1957C>T (p.Pro653Ser)
NM_017780.4(CHD7):c.1958C>G (p.Pro653Arg) rs200536932
NM_017780.4(CHD7):c.1962G>C (p.Lys654Asn)
NM_017780.4(CHD7):c.1971A>G (p.Lys657=)
NM_017780.4(CHD7):c.1977del (p.Lys660fs) rs2150669944
NM_017780.4(CHD7):c.1980G>A (p.Lys660=) rs2150669967
NM_017780.4(CHD7):c.1984_1985insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAACCCAAGGAGA (p.Lys662fs) rs2150669923
NM_017780.4(CHD7):c.1989dup (p.Glu664fs) rs2150669971
NM_017780.4(CHD7):c.1996A>G (p.Lys666Glu)
NM_017780.4(CHD7):c.2004C>T (p.Pro668=)
NM_017780.4(CHD7):c.2005A>G (p.Lys669Glu) rs2150670002
NM_017780.4(CHD7):c.2009C>A (p.Thr670Asn)
NM_017780.4(CHD7):c.2009C>G (p.Thr670Ser)
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.2017G>A (p.Ala673Thr)
NM_017780.4(CHD7):c.2022T>C (p.Pro674=)
NM_017780.4(CHD7):c.2037G>A (p.Glu679=)
NM_017780.4(CHD7):c.2048A>G (p.Lys683Arg)
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2061_2065dup (p.Thr689fs)
NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln) rs755898600
NM_017780.4(CHD7):c.2075C>G (p.Pro692Arg)
NM_017780.4(CHD7):c.2076C>T (p.Pro692=)
NM_017780.4(CHD7):c.2090del (p.Lys697fs) rs1563595385
NM_017780.4(CHD7):c.2096+1del rs2150670337
NM_017780.4(CHD7):c.2096+21dup rs111577577
NM_017780.4(CHD7):c.2096+23_2096+25del rs1811226936
NM_017780.4(CHD7):c.2096+8G>A
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388

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