ClinVar Miner

List of variants in gene combination GTPBP1, SUN2 reported as uncertain significance for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015374.3(SUN2):c.2057C>T (p.Thr686Met) rs150292176 0.00041
NM_015374.3(SUN2):c.1139C>A (p.Ala380Asp) rs143302352 0.00019
NM_015374.3(SUN2):c.1508C>T (p.Ser503Leu) rs145490494 0.00019
NM_015374.3(SUN2):c.1258G>A (p.Gly420Ser) rs376340507 0.00016
NM_015374.3(SUN2):c.2040+4C>T rs372381106 0.00015
NM_015374.3(SUN2):c.1314A>T (p.Glu438Asp) rs200311518 0.00012
NM_015374.3(SUN2):c.932G>A (p.Arg311Gln) rs376072154 0.00011
NM_015374.3(SUN2):c.1160G>A (p.Arg387His) rs775651955 0.00009
NM_015374.3(SUN2):c.1237C>T (p.Arg413Trp) rs534367476 0.00009
NM_015374.3(SUN2):c.1190+6G>A rs762466396 0.00008
NM_015374.3(SUN2):c.1205C>T (p.Ser402Phe) rs189897179 0.00006
NM_015374.3(SUN2):c.1684C>T (p.Arg562Ter) rs1370359939 0.00006
NM_015374.3(SUN2):c.1859G>A (p.Arg620His) rs566312173 0.00006
NM_015374.3(SUN2):c.2002G>A (p.Asp668Asn) rs549404842 0.00005
NM_015374.3(SUN2):c.1135C>T (p.Arg379Trp) rs372953657 0.00004
NM_015374.3(SUN2):c.1301C>T (p.Ser434Leu) rs990153882 0.00004
NM_015374.3(SUN2):c.1394T>A (p.Leu465His) rs751880061 0.00004
NM_015374.3(SUN2):c.1613G>A (p.Arg538His) rs539760038 0.00004
NM_015374.3(SUN2):c.1732G>A (p.Gly578Ser) rs750800615 0.00004
NM_015374.3(SUN2):c.854G>A (p.Arg285Gln) rs760591672 0.00004
NM_015374.3(SUN2):c.910C>T (p.Arg304Trp) rs199636823 0.00004
NM_015374.3(SUN2):c.911G>A (p.Arg304Gln) rs372788944 0.00004
NM_015374.3(SUN2):c.919C>T (p.Arg307Cys) rs758857415 0.00004
NM_015374.3(SUN2):c.1663+4C>T rs367645117 0.00003
NM_015374.3(SUN2):c.1831G>A (p.Ala611Thr) rs754499171 0.00003
NM_015374.3(SUN2):c.1061G>A (p.Arg354His) rs1240205767 0.00002
NM_015374.3(SUN2):c.1136G>A (p.Arg379Gln) rs763323157 0.00002
NM_015374.3(SUN2):c.1238G>A (p.Arg413Gln) rs748611243 0.00002
NM_015374.3(SUN2):c.1349G>A (p.Arg450Gln) rs1371797768 0.00002
NM_015374.3(SUN2):c.1467G>C (p.Glu489Asp) rs148038201 0.00002
NM_015374.3(SUN2):c.1712C>T (p.Thr571Met) rs752150588 0.00002
NM_015374.3(SUN2):c.1785T>A (p.Asp595Glu) rs770892695 0.00002
NM_015374.3(SUN2):c.1879G>C (p.Glu627Gln) rs769627673 0.00002
NM_015374.3(SUN2):c.1997C>T (p.Thr666Ile) rs755259603 0.00002
NM_015374.3(SUN2):c.817G>A (p.Glu273Lys) rs747536298 0.00002
NM_015374.3(SUN2):c.824G>A (p.Arg275His) rs780349096 0.00002
NM_015374.3(SUN2):c.931C>T (p.Arg311Trp) rs764150835 0.00002
NM_015374.3(SUN2):c.1153G>A (p.Glu385Lys) rs1451970985 0.00001
NM_015374.3(SUN2):c.1270G>A (p.Glu424Lys) rs370825322 0.00001
NM_015374.3(SUN2):c.1373C>T (p.Pro458Leu) rs781480505 0.00001
NM_015374.3(SUN2):c.1553A>G (p.Glu518Gly) rs1417867039 0.00001
NM_015374.3(SUN2):c.1633G>A (p.Gly545Arg) rs758076166 0.00001
NM_015374.3(SUN2):c.1645_1648dup (p.Ala550fs) rs1284194276 0.00001
NM_015374.3(SUN2):c.1746G>T (p.Trp582Cys) rs1370457089 0.00001
NM_015374.3(SUN2):c.1766G>A (p.Arg589Gln) rs1446967356 0.00001
NM_015374.3(SUN2):c.1990A>C (p.Lys664Gln) rs1285036282 0.00001
NM_015374.3(SUN2):c.2039A>G (p.Gln680Arg) rs1486287848 0.00001
NM_015374.3(SUN2):c.2041G>A (p.Ala681Thr) rs559096453 0.00001
NM_015374.3(SUN2):c.835C>T (p.Arg279Trp) rs1187777425 0.00001
NM_015374.3(SUN2):c.1013G>A (p.Arg338His)
NM_015374.3(SUN2):c.1015C>T (p.Arg339Cys)
NM_015374.3(SUN2):c.1016G>T (p.Arg339Leu)
NM_015374.3(SUN2):c.1057G>A (p.Ala353Thr)
NM_015374.3(SUN2):c.1058C>G (p.Ala353Gly)
NM_015374.3(SUN2):c.1060C>T (p.Arg354Cys)
NM_015374.3(SUN2):c.1072G>C (p.Glu358Gln) rs2092858191
NM_015374.3(SUN2):c.1081G>T (p.Ala361Ser) rs2092858095
NM_015374.3(SUN2):c.1090G>C (p.Ala364Pro) rs2145970738
NM_015374.3(SUN2):c.1110AGA[1] (p.Glu371del) rs1448167208
NM_015374.3(SUN2):c.1114G>T (p.Asp372Tyr)
NM_015374.3(SUN2):c.1115A>G (p.Asp372Gly)
NM_015374.3(SUN2):c.1146+3C>A rs2092857349
NM_015374.3(SUN2):c.1184G>A (p.Trp395Ter)
NM_015374.3(SUN2):c.1190+4C>A
NM_015374.3(SUN2):c.1191-3C>T rs2145957103
NM_015374.3(SUN2):c.1251G>C (p.Gln417His)
NM_015374.3(SUN2):c.1261C>G (p.Leu421Val) rs780688397
NM_015374.3(SUN2):c.1307C>T (p.Ala436Val)
NM_015374.3(SUN2):c.1345G>C (p.Val449Leu) rs117350165
NM_015374.3(SUN2):c.1348C>T (p.Arg450Trp)
NM_015374.3(SUN2):c.1352A>G (p.Asp451Gly) rs2092844667
NM_015374.3(SUN2):c.1396G>A (p.Ala466Thr)
NM_015374.3(SUN2):c.1399C>G (p.Arg467Gly)
NM_015374.3(SUN2):c.1400G>A (p.Arg467Gln)
NM_015374.3(SUN2):c.1406G>C (p.Gly469Ala)
NM_015374.3(SUN2):c.1409G>C (p.Gly470Ala)
NM_015374.3(SUN2):c.1414C>T (p.Arg472Cys)
NM_015374.3(SUN2):c.1421_1429del (p.Gly474_Gln477delinsGlu) rs2145950062
NM_015374.3(SUN2):c.1435G>C (p.Glu479Gln)
NM_015374.3(SUN2):c.1510G>C (p.Ala504Pro)
NM_015374.3(SUN2):c.1562T>C (p.Ile521Thr)
NM_015374.3(SUN2):c.1579-16G>A
NM_015374.3(SUN2):c.1579C>G (p.Gln527Glu)
NM_015374.3(SUN2):c.1585C>T (p.His529Tyr)
NM_015374.3(SUN2):c.1612C>T (p.Arg538Cys) rs2092835149
NM_015374.3(SUN2):c.1648G>A (p.Ala550Thr)
NM_015374.3(SUN2):c.1663+4C>G
NM_015374.3(SUN2):c.1663+5G>A
NM_015374.3(SUN2):c.1672G>A (p.Val558Ile)
NM_015374.3(SUN2):c.1691C>G (p.Ser564Cys) rs1352285124
NM_015374.3(SUN2):c.1702G>A (p.Glu568Lys)
NM_015374.3(SUN2):c.1765C>T (p.Arg589Ter)
NM_015374.3(SUN2):c.1797C>T (p.Gly599=) rs749129041
NM_015374.3(SUN2):c.1807G>A (p.Ala603Thr) rs1384723835
NM_015374.3(SUN2):c.1826G>C (p.Gly609Ala) rs949979981
NM_015374.3(SUN2):c.1838T>C (p.Val613Ala)
NM_015374.3(SUN2):c.1840C>T (p.Arg614Cys)
NM_015374.3(SUN2):c.1841G>A (p.Arg614His)
NM_015374.3(SUN2):c.1886T>C (p.Val629Ala) rs2092828049
NM_015374.3(SUN2):c.1894G>A (p.Ala632Thr) rs1021027363
NM_015374.3(SUN2):c.1921A>T (p.Ser641Cys) rs2092827661
NM_015374.3(SUN2):c.1940C>T (p.Ala647Val)
NM_015374.3(SUN2):c.1972G>A (p.Glu658Lys)
NM_015374.3(SUN2):c.2013C>T (p.Gly671=)
NM_015374.3(SUN2):c.2017C>A (p.Pro673Thr)
NM_015374.3(SUN2):c.2032C>T (p.His678Tyr) rs771616583
NM_015374.3(SUN2):c.2040+19_2040+21delinsGCGTACCTGGGCAGATGCAGGTACGGGAT
NM_015374.3(SUN2):c.2040+5G>A
NM_015374.3(SUN2):c.2048C>T (p.Thr683Met)
NM_015374.3(SUN2):c.2053del (p.Ala685fs) rs1264903354
NM_015374.3(SUN2):c.2073G>C (p.Glu691Asp)
NM_015374.3(SUN2):c.2078G>A (p.Arg693Gln) rs137996727
NM_015374.3(SUN2):c.2078G>T (p.Arg693Leu)
NM_015374.3(SUN2):c.2094G>C (p.Trp698Cys)
NM_015374.3(SUN2):c.2104G>A (p.Glu702Lys)
NM_015374.3(SUN2):c.2104G>C (p.Glu702Gln)
NM_015374.3(SUN2):c.2122C>T (p.Arg708Cys)
NM_015374.3(SUN2):c.2140G>A (p.Glu714Lys) rs2092804001
NM_015374.3(SUN2):c.2147C>A (p.Ala716Asp)
NM_015374.3(SUN2):c.2151C>A (p.His717Gln) rs917841252
NM_015374.3(SUN2):c.823C>T (p.Arg275Cys)
NM_015374.3(SUN2):c.874G>A (p.Ala292Thr) rs2145981465
NM_015374.3(SUN2):c.920G>A (p.Arg307His)
NM_015374.3(SUN2):c.929T>C (p.Leu310Pro)
NM_015374.3(SUN2):c.952G>A (p.Gly318Arg) rs762660159
NM_015374.3(SUN2):c.988G>C (p.Ala330Pro)
NM_015374.3(SUN2):c.989C>T (p.Ala330Val) rs564884199
NM_015374.3(SUN2):c.992T>C (p.Leu331Pro)

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.