ClinVar Miner

List of variants reported as uncertain significance for congenital hypogonadotropic hypogonadism by New York Genome Center

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) rs139453594 0.00157
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) rs143174906 0.00085
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) rs142143966 0.00055
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg) rs777466386 0.00004
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala) rs764518030 0.00001
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr) rs1216919340 0.00001
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp) rs772413215 0.00001
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile) rs984557516 0.00001
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met)
NM_000439.5(PCSK1):c.1430+7A>G
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val)
NM_002303.6(LEPR):c.1012C>A (p.Pro338Thr)
NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe)
NM_002303.6(LEPR):c.346A>C (p.Asn116His)
NM_002303.6(LEPR):c.495-2927T>G
NM_002303.6(LEPR):c.976C>T (p.Arg326Cys)
NM_017780.4(CHD7):c.1577A>G (p.Gln526Arg) rs2150581368
NM_017780.4(CHD7):c.4771C>T (p.Pro1591Ser) rs2150786767
NM_017780.4(CHD7):c.6598G>C (p.Gly2200Arg) rs747357928
NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile)
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=) rs1805737676
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val) rs2140716042
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) rs201935129
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp) rs2140713261
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser) rs1357977229
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr) rs779840896
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val) rs2140718561
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)
NM_033343.4(LHX4):c.464C>T (p.Ala155Val) rs746041842

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