ClinVar Miner

List of variants reported as likely pathogenic for Delayed puberty

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Total variants: 16
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HGVS dbSNP
NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter) rs727505374
NM_000406.2(GNRHR):c.350T>G (p.Leu117Arg) rs727505367
NM_001059.3(TACR3):c.511G>C (p.Ala171Pro) rs201195175
NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile) rs138952094
NM_013251.4(TAC3):c.238C>A (p.Arg80Ser) rs727505372
NM_013251.4(TAC3):c.248A>G (p.His83Arg) rs143862988
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377
NM_017563.5(IL17RD):c.600G>A (p.Trp200Ter) rs727505366
NM_023110.2(FGFR1):c.1035_1036CT[1] (p.Ser346fs) rs727505371
NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.2(FGFR1):c.1916T>C (p.Ile639Thr) rs727505370
NM_023110.2(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.2(FGFR1):c.296A>G (p.Tyr99Cys) rs727505373
NM_023110.2(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NT_029419.13:g.18595G>T rs727505368

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