ClinVar Miner

List of variants in gene FKTN reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.*5578G>A rs41277801 0.00776
NM_001079802.2(FKTN):c.*2213A>G rs141298287 0.00678
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_001079802.2(FKTN):c.*3918A>G rs17316607 0.00167
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_001079802.2(FKTN):c.1248C>T (p.Leu416=) rs774804160 0.00004
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His) rs752191412 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NC_000009.12:g.105644701C>T
NC_000009.12:g.105644735A>C
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1248C>G (p.Leu416=) rs774804160
NM_001079802.2(FKTN):c.258C>T (p.Asn86=) rs1554751233

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