ClinVar Miner

List of variants reported as uncertain significance for Hypogonadotropic hypogonadism 5 with or without anosmia by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.-466A>G rs71513464 0.12438
NM_017780.4(CHD7):c.-230G>C rs886063030 0.00124
NM_017780.4(CHD7):c.*1116C>G rs45504193 0.00117
NM_017780.4(CHD7):c.*1143A>G rs45573835 0.00117
NM_017780.4(CHD7):c.*251T>C rs529121143 0.00068
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_017780.4(CHD7):c.*527C>T rs1011990961 0.00024
NM_017780.4(CHD7):c.-249C>G rs886063029 0.00021
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_017780.4(CHD7):c.4645-9T>C rs766575601 0.00014
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228 0.00014
NM_017780.4(CHD7):c.*1120C>T rs572548208 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=) rs370471177 0.00011
NM_017780.4(CHD7):c.*1577C>G rs886063052 0.00010
NM_017780.4(CHD7):c.*1788C>T rs527801100 0.00010
NM_017780.4(CHD7):c.*644A>T rs779551569 0.00008
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn) rs747846723 0.00008
NM_017780.4(CHD7):c.8791G>A (p.Val2931Met) rs370271088 0.00008
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840 0.00007
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472 0.00007
NM_017780.4(CHD7):c.*622G>A rs886063047 0.00006
NM_017780.4(CHD7):c.-25T>A rs780813907 0.00006
NM_017780.4(CHD7):c.-327C>G rs531113504 0.00006
NM_017780.4(CHD7):c.1410A>G (p.Glu470=) rs368648424 0.00006
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131 0.00006
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=) rs368919638 0.00006
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg) rs777303307 0.00006
NM_017780.4(CHD7):c.1959G>A (p.Pro653=) rs747024874 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993 0.00005
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=) rs757280832 0.00005
NM_017780.4(CHD7):c.*659T>C rs886063048 0.00004
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=) rs373942842 0.00004
NM_017780.4(CHD7):c.2238+12A>G rs752854030 0.00004
NM_017780.4(CHD7):c.2820G>A (p.Pro940=) rs539734440 0.00004
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_017780.4(CHD7):c.5589G>A (p.Pro1863=) rs376806146 0.00004
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe) rs561398606 0.00004
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=) rs757868659 0.00004
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) rs761410781 0.00004
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) rs761409446 0.00004
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=) rs199565939 0.00004
NM_017780.4(CHD7):c.*2057G>A rs116952338 0.00003
NM_017780.4(CHD7):c.8364T>C (p.Asp2788=) rs886063041 0.00003
NM_017780.4(CHD7):c.*108A>G rs1412783180 0.00002
NM_017780.4(CHD7):c.*1628C>T rs956785378 0.00002
NM_017780.4(CHD7):c.*1679G>A rs1484512188 0.00002
NM_017780.4(CHD7):c.*505C>T rs886063046 0.00002
NM_017780.4(CHD7):c.*839A>G rs886063050 0.00002
NM_017780.4(CHD7):c.-70A>G rs1452184371 0.00002
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg) rs1441258013 0.00002
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449 0.00002
NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp) rs886063038 0.00002
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val) rs369433978 0.00002
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969 0.00002
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) rs371930390 0.00002
NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser) rs748655442 0.00002
NM_017780.4(CHD7):c.947G>T (p.Ser316Ile) rs749302988 0.00002
NM_017780.4(CHD7):c.*1737T>C rs1806282500 0.00001
NM_017780.4(CHD7):c.*1804T>G rs973384265 0.00001
NM_017780.4(CHD7):c.*731G>A rs886063049 0.00001
NM_017780.4(CHD7):c.1566C>T (p.Gly522=) rs759347960 0.00001
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu) rs778361949 0.00001
NM_017780.4(CHD7):c.1887A>G (p.Leu629=) rs1480207845 0.00001
NM_017780.4(CHD7):c.1977C>T (p.Pro659=) rs886063034 0.00001
NM_017780.4(CHD7):c.202C>T (p.His68Tyr) rs886063032 0.00001
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met) rs373706363 0.00001
NM_017780.4(CHD7):c.2355C>T (p.Asn785=) rs376696075 0.00001
NM_017780.4(CHD7):c.2613+4C>T rs779615403 0.00001
NM_017780.4(CHD7):c.308C>T (p.Ser103Leu) rs1242372187 0.00001
NM_017780.4(CHD7):c.4644+14C>T rs1368983693 0.00001
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys) rs768950252 0.00001
NM_017780.4(CHD7):c.5915C>G (p.Ala1972Gly) rs1013310877 0.00001
NM_017780.4(CHD7):c.6775+6G>T rs773804340 0.00001
NM_017780.4(CHD7):c.8168G>A (p.Ser2723Asn) rs756347672 0.00001
NM_017780.4(CHD7):c.89C>T (p.Pro30Leu) rs768014298 0.00001
NM_017780.4(CHD7):c.*1374C>A rs1351282001
NM_017780.4(CHD7):c.*1469G>T rs886063051
NM_017780.4(CHD7):c.*166T>C rs1045828796
NM_017780.4(CHD7):c.*1698T>G rs544498983
NM_017780.4(CHD7):c.*1832A>G rs886063055
NM_017780.4(CHD7):c.*190A>G rs1032110611
NM_017780.4(CHD7):c.*19C>A rs371417969
NM_017780.4(CHD7):c.*21A>G rs1279774618
NM_017780.4(CHD7):c.*293G>C rs886063044
NM_017780.4(CHD7):c.*489C>G rs1806244672
NM_017780.4(CHD7):c.*542C>T rs565543543
NM_017780.4(CHD7):c.-102G>T rs1808989933
NM_017780.4(CHD7):c.-181C>G rs531989939
NM_017780.4(CHD7):c.-298C>A rs886063028
NM_017780.4(CHD7):c.-469G>A rs868087197
NM_017780.4(CHD7):c.-472G>A rs865775134
NM_017780.4(CHD7):c.-481G>A rs886063024
NM_017780.4(CHD7):c.13G>C (p.Gly5Arg) rs886063031
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1856A>G (p.Asp619Gly) rs1375813352
NM_017780.4(CHD7):c.2097T>G (p.Ser699Arg) rs767027265
NM_017780.4(CHD7):c.2426G>A (p.Arg809His) rs1313215076
NM_017780.4(CHD7):c.290G>A (p.Gly97Glu) rs1809028585
NM_017780.4(CHD7):c.3509A>G (p.Lys1170Arg) rs1804369175
NM_017780.4(CHD7):c.3779-10A>G rs886063035
NM_017780.4(CHD7):c.5211-11T>G rs886063036
NM_017780.4(CHD7):c.5333A>G (p.His1778Arg) rs764082970
NM_017780.4(CHD7):c.5343T>C (p.Val1781=) rs886063037
NM_017780.4(CHD7):c.5345C>T (p.Pro1782Leu) rs891268640
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.575A>G (p.Tyr192Cys) rs749792505
NM_017780.4(CHD7):c.5833C>A (p.Arg1945=) rs757160222
NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val) rs886063039
NM_017780.4(CHD7):c.6685T>C (p.Ser2229Pro) rs1805566024
NM_017780.4(CHD7):c.7044T>G (p.Gly2348=) rs886063040
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) rs398124323
NM_017780.4(CHD7):c.7468T>C (p.Ser2490Pro) rs1319276265
NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe) rs755563758
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.8892G>A (p.Lys2964=) rs375867350

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