ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_019066.5(MAGEL2):c.494C>T (p.Pro165Leu) rs572249702 0.00045
NM_000515.5(GH1):c.217A>G (p.Asn73Asp) rs71640276 0.00027
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_000515.5(GH1):c.502A>T (p.Thr168Ser) rs771280061 0.00001
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu) rs762290343 0.00001
GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1
NM_000306.4(POU1F1):c.143-64T>G rs1064796954
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
NM_000515.5(GH1):c.452T>C (p.Met151Thr) rs1180054712
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) rs137853219
NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter) rs757358893
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_017780.4(CHD7):c.4192G>A (p.Ala1398Thr)
NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val) rs1057521078
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter) rs1805529214
NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)
NM_017780.4(CHD7):c.7297del (p.Val2433fs) rs1064793972
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter) rs2140715275
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_033343.4(LHX4):c.602T>C (p.Val201Ala) rs1648658489

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