ClinVar Miner

List of variants studied for precocious puberty by Human Developmental Genetics, Institut Pasteur

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.46A>T (p.Lys16Ter) rs2146036792
NM_001291415.2(KDM6A):c.139G>A (p.Glu47Lys) rs2146444183
NM_001378964.1(CDON):c.1109T>C (p.Val370Ala) rs1947430952
NM_002303.6(LEPR):c.2728C>T (p.Pro910Ser) rs2101046855
NM_003611.3(OFD1):c.950A>G (p.Gln317Arg) rs2146992262
NM_003611.3(OFD1):c.951G>T (p.Gln317His) rs2047489418

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