ClinVar Miner

List of variants in gene CRTAP reported as pathogenic for bone development disease

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter) rs72659361 0.00009
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NC_000003.11:g.(?_33149240)_(33156004_?)del
NC_000003.11:g.(?_33155570)_(33156060_?)del
NC_000003.11:g.(?_33155570)_(33166091_?)del
NC_000003.11:g.(?_33155570)_(33175777_?)del
NC_000003.11:g.(?_33171213)_(33175693_?)del
NC_000003.11:g.(?_33171411)_(33171579_?)del
NC_000003.11:g.(?_33171411)_(33174212_?)del
NC_000003.12:g.(?_33114058)_(33124599_?)del
NM_006371.5(CRTAP):c.1001del (p.Asn334fs) rs2125603874
NM_006371.5(CRTAP):c.1020C>G (p.Tyr340Ter)
NM_006371.5(CRTAP):c.1153-3C>G rs201554363
NM_006371.5(CRTAP):c.118G>T (p.Glu40Ter) rs863225043
NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs) rs387907333
NM_006371.5(CRTAP):c.153_175dup (p.His59fs)
NM_006371.5(CRTAP):c.157del (p.Asp53fs)
NM_006371.5(CRTAP):c.172G>T (p.Glu58Ter) rs769484595
NM_006371.5(CRTAP):c.179G>A (p.Trp60Ter)
NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter) rs137853939
NM_006371.5(CRTAP):c.278_293dup (p.Gly99fs)
NM_006371.5(CRTAP):c.320_321del (p.Arg107fs) rs768626850
NM_006371.5(CRTAP):c.370C>T (p.Gln124Ter)
NM_006371.5(CRTAP):c.404del (p.Ser135fs) rs137853941
NM_006371.5(CRTAP):c.406del (p.Arg136fs)
NM_006371.5(CRTAP):c.409G>T (p.Glu137Ter)
NM_006371.5(CRTAP):c.427C>T (p.Gln143Ter)
NM_006371.5(CRTAP):c.436G>T (p.Glu146Ter)
NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter) rs972668240
NM_006371.5(CRTAP):c.445A>T (p.Lys149Ter)
NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro) rs1405064021
NM_006371.5(CRTAP):c.470A>G (p.Lys157Arg) rs2125596197
NM_006371.5(CRTAP):c.471+1G>C rs72659359
NM_006371.5(CRTAP):c.471+2C>T rs137853943
NM_006371.5(CRTAP):c.472-1021C>G rs72659360
NM_006371.5(CRTAP):c.498dup (p.Ala167fs)
NM_006371.5(CRTAP):c.535G>T (p.Glu179Ter)
NM_006371.5(CRTAP):c.561T>G (p.Tyr187Ter) rs387907334
NM_006371.5(CRTAP):c.638del (p.Ala213fs)
NM_006371.5(CRTAP):c.731_732del (p.Leu244fs) rs760337365
NM_006371.5(CRTAP):c.759del (p.Lys254fs)
NM_006371.5(CRTAP):c.879del (p.Phe293fs) rs72659362
NM_006371.5(CRTAP):c.887_888insACAATGATACAAGT (p.Thr296_Met297insGlnTer)
NM_006371.5(CRTAP):c.904C>T (p.Gln302Ter)
NM_006371.5(CRTAP):c.923-2A>G
NM_006371.5(CRTAP):c.997C>T (p.Gln333Ter)

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