ClinVar Miner

List of variants in gene DCAF17 reported as likely pathogenic for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.580C>T (p.Arg194Ter) rs1470826074 0.00001
NM_025000.4(DCAF17):c.982-2A>C rs780493577 0.00001
NM_025000.4(DCAF17):c.1092-2A>G
NM_025000.4(DCAF17):c.1267-2A>C
NM_025000.4(DCAF17):c.1488_1489del (p.Arg496fs) rs778488574
NM_025000.4(DCAF17):c.270dup (p.Cys91fs) rs879253799
NM_025000.4(DCAF17):c.537+1G>T

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