ClinVar Miner

List of variants in gene SEMA3E reported as likely benign for hypogonadotropic hypogonadism

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00396
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00069
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823 0.00035
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_012431.3(SEMA3E):c.999-12T>C rs373951907 0.00029
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) rs200779956 0.00016
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287 0.00014
NM_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00013
NM_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 0.00009
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=) rs758229846 0.00008
NM_012431.3(SEMA3E):c.671-10G>A rs372840645 0.00007
NM_012431.3(SEMA3E):c.1366+10C>T rs144608744 0.00006
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=) rs111300014 0.00006
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186 0.00006
NM_012431.3(SEMA3E):c.999-16T>C rs376833826 0.00006
NM_012431.3(SEMA3E):c.814-11G>T rs781715218 0.00005
NM_012431.3(SEMA3E):c.998+10T>C rs769133097 0.00005
NM_012431.3(SEMA3E):c.1173C>T (p.Tyr391=) rs370540865 0.00004
NM_012431.3(SEMA3E):c.1239G>A (p.Gln413=) rs776317078 0.00004
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=) rs756346342 0.00004
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760 0.00004
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=) rs146189665 0.00004
NM_012431.3(SEMA3E):c.814-10G>T rs1053672541 0.00004
NM_012431.3(SEMA3E):c.1667+7C>T rs757094477 0.00003
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=) rs199840463 0.00003
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=) rs753767962 0.00003
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=) rs564120268 0.00003
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=) rs750937375 0.00002
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=) rs139043841 0.00002
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00002
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) rs538244011 0.00002
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=) rs375209449 0.00002
NM_012431.3(SEMA3E):c.671-19C>A rs375797663 0.00002
NM_012431.3(SEMA3E):c.798C>T (p.Val266=) rs1475070881 0.00002
NM_012431.3(SEMA3E):c.929-10A>G rs1032615953 0.00002
NM_012431.3(SEMA3E):c.1053A>G (p.Ala351=) rs1208777030 0.00001
NM_012431.3(SEMA3E):c.116-15C>T rs745461858 0.00001
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=) rs1435041618 0.00001
NM_012431.3(SEMA3E):c.1367-4A>G rs927631455 0.00001
NM_012431.3(SEMA3E):c.1876-11T>C rs542379432 0.00001
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849 0.00001
NM_012431.3(SEMA3E):c.1977T>C (p.His659=) rs1451860370 0.00001
NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=) rs753319647 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215 0.00001
NM_012431.3(SEMA3E):c.237T>C (p.Tyr79=) rs1790350122 0.00001
NM_012431.3(SEMA3E):c.276+19G>C rs186974190 0.00001
NM_012431.3(SEMA3E):c.378C>T (p.Asn126=) rs758897440 0.00001
NM_012431.3(SEMA3E):c.551-17C>T rs771573182 0.00001
NM_012431.3(SEMA3E):c.576C>T (p.Tyr192=) rs756263299 0.00001
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=) rs200688368 0.00001
NM_012431.3(SEMA3E):c.600T>G (p.Ala200=) rs773812106 0.00001
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=) rs1457393978 0.00001
NM_012431.3(SEMA3E):c.670+12G>A rs1383072223 0.00001
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781 0.00001
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=) rs769859383 0.00001
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699 0.00001
NM_012431.3(SEMA3E):c.999-10T>C rs371994521 0.00001
NM_012431.3(SEMA3E):c.999-9A>G rs776954864 0.00001
NM_012431.3(SEMA3E):c.1009C>A (p.Arg337=) rs965528935
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=)
NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=)
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=)
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=) rs2115627595
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=)
NM_012431.3(SEMA3E):c.1143+15A>G
NM_012431.3(SEMA3E):c.1143+17A>G
NM_012431.3(SEMA3E):c.1144-12C>T
NM_012431.3(SEMA3E):c.1144-13A>G
NM_012431.3(SEMA3E):c.1144-15C>A
NM_012431.3(SEMA3E):c.1144-19_1144-15del rs755190119
NM_012431.3(SEMA3E):c.1144-7T>C rs1370491845
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=)
NM_012431.3(SEMA3E):c.116-16T>A rs771714740
NM_012431.3(SEMA3E):c.116-7A>T rs2115977179
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=)
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=)
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=) rs2115977130
NM_012431.3(SEMA3E):c.1251T>G (p.Pro417=) rs2115616642
NM_012431.3(SEMA3E):c.1260A>G (p.Lys420=)
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=)
NM_012431.3(SEMA3E):c.1366+11G>T
NM_012431.3(SEMA3E):c.1367-17GTTTT[3]
NM_012431.3(SEMA3E):c.1367-20C>T
NM_012431.3(SEMA3E):c.1367-7C>T rs2115601484
NM_012431.3(SEMA3E):c.1383G>A (p.Leu461=) rs139043841
NM_012431.3(SEMA3E):c.1392C>T (p.Ile464=)
NM_012431.3(SEMA3E):c.1458+11C>T
NM_012431.3(SEMA3E):c.1458+19A>G rs2115600702
NM_012431.3(SEMA3E):c.1459-11del
NM_012431.3(SEMA3E):c.1459-12_1459-11del rs1788078377
NM_012431.3(SEMA3E):c.1459-17del rs2115589623
NM_012431.3(SEMA3E):c.1461T>C (p.Asp487=)
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=)
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=)
NM_012431.3(SEMA3E):c.1500+16G>A
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=) rs1788042634
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=)
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=)
NM_012431.3(SEMA3E):c.1667+8G>A
NM_012431.3(SEMA3E):c.1667+8G>T
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.1668-18G>T rs771755120
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=)
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=) rs1584209229
NM_012431.3(SEMA3E):c.1728G>A (p.Gln576=) rs2116918980
NM_012431.3(SEMA3E):c.1735+17C>T
NM_012431.3(SEMA3E):c.1736-13G>T rs1296337014
NM_012431.3(SEMA3E):c.1736-9C>T
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=)
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=)
NM_012431.3(SEMA3E):c.1875+15C>A rs1325542892
NM_012431.3(SEMA3E):c.1875+17T>G
NM_012431.3(SEMA3E):c.1875+19T>C
NM_012431.3(SEMA3E):c.1875+20T>G
NM_012431.3(SEMA3E):c.1876-14T>A rs891019060
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1876-5T>C rs1794699166
NM_012431.3(SEMA3E):c.1876-8T>C
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=)
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=) rs1794698394
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=) rs757700378
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=) rs2116891596
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=) rs1199344717
NM_012431.3(SEMA3E):c.276+10T>C
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=)
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=)
NM_012431.3(SEMA3E):c.336+14A>G
NM_012431.3(SEMA3E):c.336+15T>C
NM_012431.3(SEMA3E):c.337-18C>G
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=)
NM_012431.3(SEMA3E):c.456+11T>A
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=)
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=) rs944160895
NM_012431.3(SEMA3E):c.550+14C>T
NM_012431.3(SEMA3E):c.550+17C>T
NM_012431.3(SEMA3E):c.551-11C>T
NM_012431.3(SEMA3E):c.551-14A>G
NM_012431.3(SEMA3E):c.551-14A>T
NM_012431.3(SEMA3E):c.551-18A>G rs774812464
NM_012431.3(SEMA3E):c.551-4G>A rs1788369989
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=) rs1788369340
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=)
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=) rs2115654801
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=)
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=)
NM_012431.3(SEMA3E):c.670+11G>A
NM_012431.3(SEMA3E):c.670+20T>C
NM_012431.3(SEMA3E):c.670+8T>A
NM_012431.3(SEMA3E):c.671-16T>C
NM_012431.3(SEMA3E):c.671-19C>T rs375797663
NM_012431.3(SEMA3E):c.671-7C>T rs1255502131
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=) rs2115649282
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=)
NM_012431.3(SEMA3E):c.726C>T (p.Asn242=)
NM_012431.3(SEMA3E):c.732A>G (p.Val244=)
NM_012431.3(SEMA3E):c.780C>T (p.His260=) rs533306215
NM_012431.3(SEMA3E):c.789C>T (p.Tyr263=) rs1467250504
NM_012431.3(SEMA3E):c.807C>T (p.Leu269=)
NM_012431.3(SEMA3E):c.813+10TC[3]
NM_012431.3(SEMA3E):c.813+20_813+22del
NM_012431.3(SEMA3E):c.814-18C>G rs1027659475
NM_012431.3(SEMA3E):c.814-20C>T
NM_012431.3(SEMA3E):c.814-9T>C rs1562767558
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=)
NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=) rs1584226009
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=) rs2115643169
NM_012431.3(SEMA3E):c.870G>T (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.891A>G (p.Pro297=)
NM_012431.3(SEMA3E):c.90C>T (p.His30=)
NM_012431.3(SEMA3E):c.928+10T>C
NM_012431.3(SEMA3E):c.928+12T>G
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=) rs2115641011
NM_012431.3(SEMA3E):c.998+15C>T
NM_012431.3(SEMA3E):c.998+9T>G
NM_012431.3(SEMA3E):c.999-19T>C rs2115628543
NM_012431.3(SEMA3E):c.9C>A (p.Ser3=)

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