ClinVar Miner

List of variants reported as pathogenic for precocious puberty by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro) rs121908499 0.00088
NM_000233.4(LHCGR):c.1103T>C (p.Leu368Pro) rs121912533
NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val) rs121912528
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr) rs121912526
NM_000233.4(LHCGR):c.1370T>G (p.Leu457Arg) rs121912535
NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu) rs121912531
NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly) rs121912540
NM_000233.4(LHCGR):c.1703C>T (p.Ala568Val) rs121912534
NM_000233.4(LHCGR):c.1713G>A (p.Met571Ile) rs121912519
NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val) rs121912522
NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile) rs121912521
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_005664.4(MKRN3):c.1095G>T (p.Arg365Ser) rs879255240
NM_005664.4(MKRN3):c.1172dup (p.Tyr391Ter) rs879255239
NM_005664.4(MKRN3):c.482dup (p.Ala162fs) rs763195944
NM_005664.4(MKRN3):c.637del (p.Arg213fs) rs879255238
NM_005664.4(MKRN3):c.982C>T (p.Arg328Cys) rs1264639964

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