ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Baylor Genetics

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_178138.6(LHX3):c.252-4G>T rs372058376 0.00165
NM_000823.4(GHRHR):c.975-6C>A rs117572522 0.00088
NM_002303.6(LEPR):c.2260G>A (p.Val754Met) rs150936702 0.00071
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) rs147098353 0.00044
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu) rs202243828 0.00023
NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln) rs182531866 0.00012
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_000515.5(GH1):c.246G>C (p.Glu82Asp) rs61762497 0.00009
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_006261.5(PROP1):c.359G>A (p.Arg120His) rs769171020 0.00004
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913 0.00004
NM_004667.6(HERC2):c.7069+3G>A rs778173804 0.00003
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter) rs121917844 0.00003
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) rs760038069 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_012414.4(RAB3GAP2):c.2215A>G (p.Ser739Gly) rs572722938 0.00002
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe) rs753965043 0.00002
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) rs1267794670 0.00002
NM_003865.3(HESX1):c.124C>T (p.His42Tyr) rs761470587 0.00001
NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter) rs140528998 0.00001
NM_006261.5(PROP1):c.218G>A (p.Arg73His) rs121917842 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006261.5(PROP1):c.63del (p.Leu22fs) rs780134343 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp) rs1378507372 0.00001
NM_018077.3(RBM28):c.1745G>A (p.Arg582Gln) rs201234922 0.00001
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg) rs1397065690 0.00001
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del) rs1927166327
NM_000439.5(PCSK1):c.1692A>G (p.Ile564Met) rs1580744780
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu) rs1907477324
NM_000515.5(GH1):c.302T>C (p.Leu101Pro) rs1907452711
NM_000515.5(GH1):c.588G>A (p.Met196Ile) rs1907385621
NM_001166114.2(PNPLA6):c.1769A>C (p.Gln590Pro) rs2023576110
NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln) rs1438220307
NM_001378457.1(DMXL2):c.8794C>A (p.Pro2932Thr) rs2039022160
NM_006261.5(PROP1):c.109+1G>A
NM_006261.5(PROP1):c.109+1G>T rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.129dup (p.Arg44fs) rs2113064591
NM_006261.5(PROP1):c.156dup (p.Arg53fs) rs1554182514
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.310del (p.Arg104fs) rs786204663
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs) rs1554182405
NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.629del (p.Pro210fs) rs761018422
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp) rs1658202227
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile) rs1794698535
NM_015295.3(SMCHD1):c.1504C>G (p.Pro502Ala) rs1355109257
NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)
NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)
NM_017780.4(CHD7):c.1554G>T (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1848del (p.Asp618fs) rs1811207509
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.2238G>C (p.Gln746His)
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.247A>G (p.Met83Val) rs1809024182
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter) rs1563560018
NM_017780.4(CHD7):c.5300+1G>A
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala) rs1805501302
NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) rs1064794250
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser) rs1805721790
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter) rs1890410630
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser) rs1890407784
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs) rs398122416
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) rs1890385864
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln) rs1890360315
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter) rs398122418
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs) rs398122417
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser) rs983547801
NM_021728.4(OTX2):c.730G>A (p.Ala244Thr) rs1594952158
NM_025000.4(DCAF17):c.231-8T>A
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025000.4(DCAF17):c.52C>A (p.Leu18Met) rs1693684988
NM_173648.4(CCDC141):c.187C>T (p.Leu63Phe) rs2043530237

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