ClinVar Miner

List of variants in gene GH-LCR, GH1 studied for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636 0.00985
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357 0.00414
NM_000515.5(GH1):c.217A>G (p.Asn73Asp) rs71640276 0.00027
NM_000515.5(GH1):c.246G>C (p.Glu82Asp) rs61762497 0.00009
NM_000515.5(GH1):c.309C>T (p.Arg103=) rs886053236 0.00001
NM_000515.5(GH1):c.502A>T (p.Thr168Ser) rs771280061 0.00001
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223 0.00001
NM_000515.4(GH1):c.-68A>G rs6171
NM_000515.5(GH1):c.-4T>G rs6173
NM_000515.5(GH1):c.-63A>C rs695
NM_000515.5(GH1):c.-63A>T rs695
NM_000515.5(GH1):c.131A>C (p.His44Pro) rs754126557
NM_000515.5(GH1):c.172-2A>T rs863223309
NM_000515.5(GH1):c.172G>A (p.Glu58Lys) rs2144739391
NM_000515.5(GH1):c.173A>C (p.Glu58Ala) rs2144739380
NM_000515.5(GH1):c.176A>G (p.Glu59Gly) rs2144739370
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu) rs1907477324
NM_000515.5(GH1):c.236G>C (p.Cys79Ser) rs137853222
NM_000515.5(GH1):c.245_246del (p.Glu82fs)
NM_000515.5(GH1):c.254C>T (p.Pro85Leu) rs1567803095
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000515.5(GH1):c.291+1G>C rs71640277
NM_000515.5(GH1):c.291+28G>A rs863223306
NM_000515.5(GH1):c.291+29_291+46del rs2144738731
NM_000515.5(GH1):c.291+2T>C rs863223310
NM_000515.5(GH1):c.291+5G>A rs863223307
NM_000515.5(GH1):c.291+6T>C rs797044450
NM_000515.5(GH1):c.292-37_292-16del
NM_000515.5(GH1):c.302T>C (p.Leu101Pro) rs1907452711
NM_000515.5(GH1):c.307C>T (p.Arg103Cys) rs137853220
NM_000515.5(GH1):c.334T>C (p.Trp112Arg)
NM_000515.5(GH1):c.413A>G (p.Asp138Gly) rs137853221
NM_000515.5(GH1):c.452T>C (p.Met151Thr) rs1180054712
NM_000515.5(GH1):c.456+19G>T rs61735351
NM_000515.5(GH1):c.456+1G>C rs797044449
NM_000515.5(GH1):c.456+1G>T rs797044449
NM_000515.5(GH1):c.456+5G>C rs863223308
NM_000515.5(GH1):c.52del (p.Leu18fs)
NM_000515.5(GH1):c.588G>A (p.Met196Ile) rs1907385621
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) rs137853219
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) rs2001345

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