ClinVar Miner

List of variants in gene GATAD1 studied for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021167.5(GATAD1):c.697C>T (p.Arg233Trp) rs34768413 0.01014
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr) rs564747350 0.00048
NM_021167.5(GATAD1):c.276T>G (p.Ser92=) rs143082866 0.00021
NM_021167.5(GATAD1):c.512G>A (p.Arg171Lys) rs540654499 0.00011
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00008
NM_021167.5(GATAD1):c.375+3A>G rs1227573993 0.00007
NM_021167.5(GATAD1):c.766A>G (p.Thr256Ala) rs778560008 0.00007
NM_021167.5(GATAD1):c.591C>T (p.Asp197=) rs1031781653 0.00006
NM_021167.5(GATAD1):c.770C>T (p.Pro257Leu) rs145306938 0.00006
NM_021167.5(GATAD1):c.578C>G (p.Ser193Cys) rs780188711 0.00005
NM_021167.5(GATAD1):c.721C>T (p.Pro241Ser) rs779832718 0.00005
NM_021167.5(GATAD1):c.646A>T (p.Met216Leu) rs778197140 0.00004
NM_021167.5(GATAD1):c.681T>A (p.Ser227=) rs759247482 0.00004
NM_021167.5(GATAD1):c.696A>G (p.Ser232=) rs199766577 0.00004
NM_021167.5(GATAD1):c.524A>G (p.Gln175Arg) rs145592666 0.00003
NM_021167.5(GATAD1):c.539A>T (p.Glu180Val) rs764831879 0.00003
NM_021167.5(GATAD1):c.603C>T (p.Pro201=) rs150863199 0.00003
NM_021167.5(GATAD1):c.619+16G>A rs370115533 0.00003
NM_021167.5(GATAD1):c.375+18A>G rs553955343 0.00002
NM_021167.5(GATAD1):c.406A>G (p.Ile136Val) rs200665705 0.00002
NM_021167.5(GATAD1):c.477T>C (p.Asp159=) rs377491014 0.00002
NM_021167.5(GATAD1):c.613A>G (p.Ile205Val) rs794729022 0.00002
NM_021167.5(GATAD1):c.250-14T>G rs569720137 0.00001
NM_021167.5(GATAD1):c.285C>T (p.Leu95=) rs371500622 0.00001
NM_021167.5(GATAD1):c.299A>G (p.Tyr100Cys) rs200072145 0.00001
NM_021167.5(GATAD1):c.308C>T (p.Ala103Val) rs374329900 0.00001
NM_021167.5(GATAD1):c.311C>T (p.Pro104Leu) rs768140033 0.00001
NM_021167.5(GATAD1):c.367T>C (p.Leu123=) rs146142781 0.00001
NM_021167.5(GATAD1):c.431A>G (p.Tyr144Cys) rs200584566 0.00001
NM_021167.5(GATAD1):c.466T>G (p.Ser156Ala) rs754965302 0.00001
NM_021167.5(GATAD1):c.468T>C (p.Ser156=) rs781323574 0.00001
NM_021167.5(GATAD1):c.507A>G (p.Gln169=) rs775915716 0.00001
NM_021167.5(GATAD1):c.515G>C (p.Gly172Ala) rs1237515001 0.00001
NM_021167.5(GATAD1):c.611A>G (p.Tyr204Cys) rs922487847 0.00001
NM_021167.5(GATAD1):c.774A>G (p.Ala258=) rs775303568 0.00001
NC_000007.13:g.(?_92077044)_(92085876_?)del
NM_021167.5(GATAD1):c.250-11_250-8del
NM_021167.5(GATAD1):c.250-19T>C
NM_021167.5(GATAD1):c.285C>G (p.Leu95=) rs371500622
NM_021167.5(GATAD1):c.288A>T (p.Arg96Ser)
NM_021167.5(GATAD1):c.304T>C (p.Ser102Pro) rs387907188
NM_021167.5(GATAD1):c.306T>A (p.Ser102=)
NM_021167.5(GATAD1):c.307G>T (p.Ala103Ser) rs1789290199
NM_021167.5(GATAD1):c.311_312delinsAA (p.Pro104Gln) rs1789291007
NM_021167.5(GATAD1):c.353G>A (p.Arg118Lys) rs1789292576
NM_021167.5(GATAD1):c.375+7T>G rs2115845002
NM_021167.5(GATAD1):c.376-13dup rs876657814
NM_021167.5(GATAD1):c.376-5C>T
NM_021167.5(GATAD1):c.389C>A (p.Pro130His) rs1789390751
NM_021167.5(GATAD1):c.408A>T (p.Ile136=)
NM_021167.5(GATAD1):c.411C>G (p.Ile137Met) rs1157446233
NM_021167.5(GATAD1):c.424A>G (p.Ile142Val)
NM_021167.5(GATAD1):c.436-13_436-12del
NM_021167.5(GATAD1):c.436-17T>C
NM_021167.5(GATAD1):c.456T>C (p.Gly152=)
NM_021167.5(GATAD1):c.503C>G (p.Ala168Gly)
NM_021167.5(GATAD1):c.538G>C (p.Glu180Gln)
NM_021167.5(GATAD1):c.547G>A (p.Ala183Thr)
NM_021167.5(GATAD1):c.575T>C (p.Leu192Pro) rs370960226
NM_021167.5(GATAD1):c.576C>A (p.Leu192=) rs758612559
NM_021167.5(GATAD1):c.583C>A (p.Pro195Thr)
NM_021167.5(GATAD1):c.585C>G (p.Pro195=) rs1554358970
NM_021167.5(GATAD1):c.604G>C (p.Ala202Pro)
NM_021167.5(GATAD1):c.604G>T (p.Ala202Ser) rs564747350
NM_021167.5(GATAD1):c.619+11C>A
NM_021167.5(GATAD1):c.619+19A>G
NM_021167.5(GATAD1):c.620-16C>G
NM_021167.5(GATAD1):c.620-17C>T
NM_021167.5(GATAD1):c.627G>T (p.Glu209Asp) rs2115885370
NM_021167.5(GATAD1):c.632A>T (p.Asp211Val) rs2115885418
NM_021167.5(GATAD1):c.647T>C (p.Met216Thr)
NM_021167.5(GATAD1):c.691A>G (p.Lys231Glu) rs2115885587
NM_021167.5(GATAD1):c.698G>A (p.Arg233Gln)
NM_021167.5(GATAD1):c.740G>T (p.Gly247Val)
NM_021167.5(GATAD1):c.770dup (p.Ala258fs)
NM_021167.5(GATAD1):c.777A>G (p.Ile259Met)
NM_021167.5(GATAD1):c.787G>C (p.Glu263Gln)
NM_021167.5(GATAD1):c.791C>T (p.Ser264Leu)
NM_021167.5(GATAD1):c.798C>A (p.Ala266=) rs2115886142

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.