ClinVar Miner

List of variants reported as pathogenic for central precocious puberty

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro) rs121908499 0.00088
NM_005664.4(MKRN3):c.1095G>T (p.Arg365Ser) rs879255240
NM_005664.4(MKRN3):c.1172dup (p.Tyr391Ter) rs879255239
NM_005664.4(MKRN3):c.482del (p.Pro161fs)
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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