ClinVar Miner

List of variants in gene DCAF17, METTL8 studied for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.-204C>T rs147113116 0.00309
NM_025000.4(DCAF17):c.-111G>T rs80336595 0.00176
NM_025000.4(DCAF17):c.27G>A (p.Val9=) rs570110822 0.00008
NM_025000.4(DCAF17):c.-232C>T rs1007006126 0.00005
NM_025000.4(DCAF17):c.61T>G (p.Phe21Val) rs907053017 0.00005
NM_025000.4(DCAF17):c.-206C>G rs886055103 0.00001
NM_025000.4(DCAF17):c.-212C>T rs1350956940 0.00001
NM_025000.4(DCAF17):c.-213C>T rs377182072 0.00001
NM_025000.4(DCAF17):c.-9C>G rs886055105 0.00001
NM_025000.4(DCAF17):c.-198T>C rs886055104
NM_025000.4(DCAF17):c.-222G>A rs1693603245
NM_025000.4(DCAF17):c.-243C>G rs886055102
NM_025000.4(DCAF17):c.101G>C (p.Gly34Ala) rs1414634112
NM_025000.4(DCAF17):c.102C>T (p.Gly34=)
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+21del
NM_025000.4(DCAF17):c.126+2T>G
NM_025000.4(DCAF17):c.126+6C>G rs959045013
NM_025000.4(DCAF17):c.126+7G>C
NM_025000.4(DCAF17):c.16A>C (p.Lys6Gln)
NM_025000.4(DCAF17):c.18G>C (p.Lys6Asn)
NM_025000.4(DCAF17):c.1A>G (p.Met1Val)
NM_025000.4(DCAF17):c.1A>T (p.Met1Leu)
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.2T>C (p.Met1Thr)
NM_025000.4(DCAF17):c.45C>T (p.Arg15=)
NM_025000.4(DCAF17):c.48G>A (p.Arg16=)
NM_025000.4(DCAF17):c.50del (p.Ala17fs) rs1559245286
NM_025000.4(DCAF17):c.51G>A (p.Ala17=)
NM_025000.4(DCAF17):c.51G>T (p.Ala17=)
NM_025000.4(DCAF17):c.52C>A (p.Leu18Met) rs1693684988
NM_025000.4(DCAF17):c.57C>T (p.Gly19=)
NM_025000.4(DCAF17):c.60C>A (p.Cys20Ter) rs2105706833
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.80T>G (p.Val27Gly)
NM_025000.4(DCAF17):c.81G>A (p.Val27=)
NM_025000.4(DCAF17):c.81G>C (p.Val27=)
NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter) rs868533593
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.95A>T (p.Asn32Ile)
NM_025000.4(DCAF17):c.97C>T (p.Leu33=)
NM_025000.4(DCAF17):c.9G>T (p.Pro3=)

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