ClinVar Miner

List of variants in gene KCTD17 reported as uncertain significance for Inborn genetic diseases

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001282684.2(KCTD17):c.331G>A (p.Gly111Ser) rs76442271 0.00047
NM_001282684.2(KCTD17):c.853C>T (p.Arg285Cys) rs199921196 0.00028
NM_001282684.2(KCTD17):c.316G>A (p.Glu106Lys) rs887307685 0.00005
NM_001282684.2(KCTD17):c.617C>T (p.Thr206Met) rs763707679 0.00005
NM_001282684.2(KCTD17):c.811G>A (p.Glu271Lys) rs372384887 0.00005
NM_001282684.2(KCTD17):c.883A>G (p.Lys295Glu) rs146513411 0.00005
NM_001282684.2(KCTD17):c.475C>T (p.Arg159Cys) rs140838957 0.00002
NM_001282684.2(KCTD17):c.601C>T (p.Arg201Cys) rs543313859 0.00002
NM_001282684.2(KCTD17):c.235G>A (p.Gly79Arg) rs755228334 0.00001
NM_001282684.2(KCTD17):c.299G>C (p.Gly100Ala) rs750023360 0.00001
NM_001282684.2(KCTD17):c.358C>T (p.Arg120Trp) rs1200941688 0.00001
NM_001282684.2(KCTD17):c.790C>T (p.Arg264Cys) rs780553079 0.00001
NM_001282684.2(KCTD17):c.892G>A (p.Ala298Thr) rs377601872 0.00001
NM_001282684.2(KCTD17):c.109A>T (p.Thr37Ser)
NM_001282684.2(KCTD17):c.386C>A (p.Thr129Asn)
NM_001282684.2(KCTD17):c.517G>A (p.Gly173Ser) rs1370972985
NM_001282684.2(KCTD17):c.608C>G (p.Thr203Ser) rs2517694017
NM_001282684.2(KCTD17):c.661G>C (p.Glu221Gln)
NM_001282684.2(KCTD17):c.796C>T (p.His266Tyr) rs907270839
NM_001282684.2(KCTD17):c.842G>C (p.Arg281Pro) rs770794932
NM_001282684.2(KCTD17):c.893C>T (p.Ala298Val)

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