ClinVar Miner

List of variants in gene combination DCAF17, METTL8 reported as likely benign for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.27G>A (p.Val9=) rs570110822 0.00008
NM_025000.4(DCAF17):c.106C>T (p.Leu36=) rs1693699845
NM_025000.4(DCAF17):c.109C>A (p.Arg37=)
NM_025000.4(DCAF17):c.115C>T (p.Leu39=)
NM_025000.4(DCAF17):c.126+11G>A
NM_025000.4(DCAF17):c.126+11G>C
NM_025000.4(DCAF17):c.126+12C>G
NM_025000.4(DCAF17):c.126+15G>A
NM_025000.4(DCAF17):c.126+17C>T
NM_025000.4(DCAF17):c.126+18G>A
NM_025000.4(DCAF17):c.126+19_126+36dup
NM_025000.4(DCAF17):c.126+7G>C
NM_025000.4(DCAF17):c.16A>C (p.Lys6Gln)
NM_025000.4(DCAF17):c.21C>G (p.Pro7=)
NM_025000.4(DCAF17):c.21C>T (p.Pro7=)
NM_025000.4(DCAF17):c.27G>T (p.Val9=)
NM_025000.4(DCAF17):c.45C>T (p.Arg15=)
NM_025000.4(DCAF17):c.48G>A (p.Arg16=)
NM_025000.4(DCAF17):c.51G>A (p.Ala17=)
NM_025000.4(DCAF17):c.51G>T (p.Ala17=)
NM_025000.4(DCAF17):c.57C>T (p.Gly19=)
NM_025000.4(DCAF17):c.60C>T (p.Cys20=)
NM_025000.4(DCAF17):c.69C>T (p.Arg23=)
NM_025000.4(DCAF17):c.78C>A (p.Gly26=)
NM_025000.4(DCAF17):c.81G>A (p.Val27=)
NM_025000.4(DCAF17):c.81G>C (p.Val27=)
NM_025000.4(DCAF17):c.87G>A (p.Gln29=)
NM_025000.4(DCAF17):c.90G>A (p.Arg30=)
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr) rs748586810
NM_025000.4(DCAF17):c.97C>T (p.Leu33=)
NM_025000.4(DCAF17):c.9G>T (p.Pro3=)

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