ClinVar Miner

List of variants in gene CRTAP studied for not provided

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_006371.5(CRTAP):c.922+100A>G rs4392367 0.79281
NM_006371.5(CRTAP):c.1068+305_1068+306insA rs11414035 0.75545
NM_006371.5(CRTAP):c.1068+303A>G rs62250517 0.75536
NM_006371.5(CRTAP):c.793+285T>C rs34649802 0.18113
NM_006371.5(CRTAP):c.472-107A>G rs4074416 0.18060
NM_006371.5(CRTAP):c.472-683A>C rs4074417 0.18036
NM_006371.5(CRTAP):c.471+295A>G rs9841225 0.17622
NC_000003.12:g.33113772T>G rs6809511 0.15427
NM_006371.5(CRTAP):c.1069-246C>A rs34970981 0.06657
NM_006371.5(CRTAP):c.*269C>T rs143237314 0.03228
NM_006371.5(CRTAP):c.794-291C>T rs149706640 0.02922
NM_006371.5(CRTAP):c.472-257G>A rs115477635 0.01350
NM_006371.5(CRTAP):c.1068+161T>C rs192438149 0.01226
NM_006371.5(CRTAP):c.794-240A>G rs191559796 0.00625
NM_006371.5(CRTAP):c.923-171G>A rs72857473 0.00585
NM_006371.5(CRTAP):c.888C>T (p.Thr296=) rs13637 0.00524
NM_006371.5(CRTAP):c.622-81G>A rs145267227 0.00510
NM_006371.5(CRTAP):c.1069-202A>G rs60018840 0.00468
NM_006371.5(CRTAP):c.*7G>A rs145383822 0.00372
NM_006371.5(CRTAP):c.*288C>T rs111603077 0.00336
NM_006371.5(CRTAP):c.621+188G>A rs116647490 0.00325
NM_006371.5(CRTAP):c.621+314C>G rs116366735 0.00324
NM_006371.5(CRTAP):c.622-280T>C rs116418466 0.00324
NM_006371.5(CRTAP):c.621+98T>C rs149781980 0.00322
NM_006371.5(CRTAP):c.471+254C>T rs77397972 0.00311
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg) rs201564256 0.00080
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val) rs202118861 0.00070
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu) rs147140948 0.00016
NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys) rs201267683 0.00012
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_006371.5(CRTAP):c.88C>A (p.Arg30Ser) rs553076085 0.00010
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter) rs72659361 0.00009
NM_006371.5(CRTAP):c.361C>T (p.Arg121Cys) rs750500429 0.00006
NM_006371.5(CRTAP):c.111A>G (p.Pro37=) rs772038741 0.00004
NM_006371.5(CRTAP):c.611A>C (p.Lys204Thr) rs145623565 0.00004
NM_006371.5(CRTAP):c.221A>T (p.His74Leu) rs767924679 0.00001
NM_006371.5(CRTAP):c.1090G>A (p.Val364Met) rs2125604584
NM_006371.5(CRTAP):c.1106A>G (p.Lys369Arg) rs886042167
NM_006371.5(CRTAP):c.1128G>A (p.Lys376=) rs1575519242
NM_006371.5(CRTAP):c.331G>T (p.Gly111Cys)
NM_006371.5(CRTAP):c.472-136C>A rs72857451
NM_006371.5(CRTAP):c.472-821_472-819del rs35015376
NM_006371.5(CRTAP):c.472-837dup rs5847773
NM_006371.5(CRTAP):c.472-839_472-837dup rs5847773
NM_006371.5(CRTAP):c.472-91A>G rs4074415
NM_006371.5(CRTAP):c.473_621+1del rs2029867406
NM_006371.5(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006371.5(CRTAP):c.621+264A>C rs59622575
NM_006371.5(CRTAP):c.733G>C (p.Ala245Pro) rs145644749
NM_006371.5(CRTAP):c.822_826delinsT (p.Lys274fs)
NM_006371.5(CRTAP):c.903_908del (p.Leu301_Gln302del) rs2030205751
NM_006371.5(CRTAP):c.94A>G (p.Ser32Gly) rs748431852

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