ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) rs104893842 0.00021
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter) rs121918117 0.00018
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 0.00011
NM_017780.4(CHD7):c.7198C>T (p.Arg2400Trp) rs770959300 0.00001
NM_000439.5(PCSK1):c.772C>A (p.Pro258Thr)
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter)
NM_000475.5(NR0B1):c.617del (p.His206fs)
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro) rs2147006470
NM_002303.6(LEPR):c.1752+1G>A
NM_017619.4(RNPC3):c.48CTC[2] (p.Ser19del)
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.529C>T (p.Pro177Ser)
NM_017780.4(CHD7):c.573C>G (p.Ser191Arg)
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_019066.5(MAGEL2):c.476T>C (p.Met159Thr)
NM_207111.4(RNF216):c.1904C>T (p.Pro635Leu)

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