ClinVar Miner

List of variants reported as likely pathogenic for hypogonadotropic hypogonadism by 3billion

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu) rs376239580 0.00002
NM_000439.5(PCSK1):c.1549C>T (p.Arg517Ter) rs1168396288 0.00001
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro) rs1559614730
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) rs104893765
NM_000439.5(PCSK1):c.675C>A (p.Cys225Ter) rs150991567
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs) rs2147007005
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)
NM_006261.5(PROP1):c.343-1G>A
NM_017780.4(CHD7):c.2442+1G>A rs1085307582
NM_017780.4(CHD7):c.4995G>A (p.Trp1665Ter)
NM_017780.4(CHD7):c.5210+1G>A rs2150794309
NM_017780.4(CHD7):c.5955del (p.Phe1985fs)
NM_017780.4(CHD7):c.6208dup (p.His2070fs)
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_018117.12(WDR11):c.163dup (p.Gln55fs) rs2133718612
NM_019066.5(MAGEL2):c.1656del (p.Ala553fs)
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter) rs768844200
NM_023110.3(FGFR1):c.1471C>T (p.Gln491Ter) rs2150655456

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