List of variants in gene FKBP14 reported as pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_017946.4(FKBP14):c.156T>A (p.Tyr52Ter)	rs1562840744	0.00001
NM_017946.4(FKBP14):c.34dup (p.Leu12fs)	rs778176957	0.00001
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)	rs753355121	0.00001
NM_017946.4(FKBP14):c.197+5_197+8del	rs747353360
NM_017946.4(FKBP14):c.206dup (p.His69fs)	rs2127949580
NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter)	rs1790069483
NM_017946.4(FKBP14):c.34_35del (p.Leu12fs)	rs1583738732
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_017946.4(FKBP14):c.36_37del (p.Phe13fs)
NM_017946.4(FKBP14):c.42_60del (p.Val14_Thr15insTer)	rs770271683
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del)	rs1430849353
NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr)	rs1583725395
NM_017946.4(FKBP14):c.95_96del (p.Leu32fs)	rs2127950876

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