ClinVar Miner

List of variants in gene FKTN reported as likely pathogenic by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) rs1429464723 0.00002
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402 0.00001
NM_001079802.2(FKTN):c.911-1G>A rs958678700 0.00001
NM_001079802.2(FKTN):c.1022del (p.Pro341fs) rs2133163213
NM_001079802.2(FKTN):c.1044+2T>A
NM_001079802.2(FKTN):c.1045-1G>T
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter) rs1588222602
NM_001079802.2(FKTN):c.1172+1G>A rs1554761462
NM_001079802.2(FKTN):c.1175dup (p.Tyr392Ter)
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1225_1236delinsT (p.Val409fs)
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
NM_001079802.2(FKTN):c.166-1G>A
NM_001079802.2(FKTN):c.219del (p.Ile75fs)
NM_001079802.2(FKTN):c.21del (p.Asn7fs)
NM_001079802.2(FKTN):c.348dup (p.Tyr117fs)
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter) rs1376019203
NM_001079802.2(FKTN):c.370-1G>C
NM_001079802.2(FKTN):c.38T>A (p.Leu13Ter)
NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_001079802.2(FKTN):c.515A>G (p.His172Arg)
NM_001079802.2(FKTN):c.530_546del (p.His177fs)
NM_001079802.2(FKTN):c.540del (p.Ser180fs) rs1828477244
NM_001079802.2(FKTN):c.594del (p.Lys198fs)
NM_001079802.2(FKTN):c.608del (p.Arg203fs)
NM_001079802.2(FKTN):c.60dup (p.Leu21fs)
NM_001079802.2(FKTN):c.658del (p.Gln220fs)
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_001079802.2(FKTN):c.910+1G>C
NM_001079802.2(FKTN):c.914_925delinsTATTCCTAATA (p.Trp305fs)
NM_001079802.2(FKTN):c.989_991delinsTAATC (p.Asp330fs)
NM_001079802.2(FKTN):c.998T>G (p.Leu333Ter)

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