ClinVar Miner

List of variants in gene TAFAZZIN reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.584-138G>A rs73571581 0.04108
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01627
NM_000116.5(TAFAZZIN):c.461-46C>T rs112760522 0.01296
NM_000116.5(TAFAZZIN):c.370+262A>C rs181382694 0.01139
NM_000116.5(TAFAZZIN):c.647-42C>T rs73638278 0.00830
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00367
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_000116.5(TAFAZZIN):c.647-29C>T rs200674881 0.00120
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00038
NM_000116.5(TAFAZZIN):c.584-7del rs782192927 0.00019
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478 0.00008
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00006
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766 0.00005
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414 0.00004
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=) rs143525004 0.00003
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355 0.00002
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) rs782523340 0.00002
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=) rs782223969 0.00001
NM_000116.5(TAFAZZIN):c.238+11C>G rs1163786089 0.00001
NM_000116.5(TAFAZZIN):c.325C>T (p.His109Tyr) rs1557191762 0.00001
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655 0.00001
NM_000116.5(TAFAZZIN):c.460+5G>A rs1325571965 0.00001
NM_000116.5(TAFAZZIN):c.461-16G>C rs782759146 0.00001
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) rs990648341 0.00001
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041 0.00001
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu) rs2068606445 0.00001
NM_000116.5(TAFAZZIN):c.796C>G (p.Leu266Val) rs1557194499 0.00001
NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter) rs794729166
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.238+5C>T rs2148186747
NM_000116.5(TAFAZZIN):c.239-6del rs1064794479
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>C (p.Arg94Pro) rs1060500044
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile) rs2522942187
NM_000116.5(TAFAZZIN):c.371-16G>T rs782565538
NM_000116.5(TAFAZZIN):c.393G>C (p.Glu131Asp)
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) rs782240044
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.461-2A>G rs876661038
NM_000116.5(TAFAZZIN):c.487dup (p.Asp163fs) rs1557193821
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn) rs2068570204
NM_000116.5(TAFAZZIN):c.526C>T (p.His176Tyr) rs794729174
NM_000116.5(TAFAZZIN):c.572G>A (p.Arg191His) rs876661034
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) rs794729167
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr) rs2522990563
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) rs587781186
NM_000116.5(TAFAZZIN):c.639G>A (p.Trp213Ter) rs1557194077
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647-2_649delinsTCCTGCACAG
NM_000116.5(TAFAZZIN):c.699+1G>A rs1057518416
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.738G>A (p.Leu246=) rs1603382194
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.794C>T (p.Ala265Val) rs994087698
NM_000116.5(TAFAZZIN):c.797T>C (p.Leu266Pro)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.