ClinVar Miner

List of variants reported as likely pathogenic for precocious puberty

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032551.5(KISS1R):c.1091T>A (p.Leu364His) rs350132 0.80022
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) rs121912523 0.00001
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) rs104894703 0.00001
NM_000233.4(LHCGR):c.1573C>T (p.Gln525Ter) rs1680005340
NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr) rs121912532
NM_003836.7(DLK1):c.357C>G (p.Tyr119Ter)
NM_004663.5(RAB11A):c.335A>G (p.His112Arg)
NM_005664.4(MKRN3):c.326G>A (p.Cys109Tyr) rs1566764505

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