ClinVar Miner

List of variants in gene combination GTPBP1, SUN2 reported as uncertain significance for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 136
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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.1100A>G (p.Gln367Arg)
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.1364C>T (p.Ser455Phe)
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.1417G>A (p.Val473Met)
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.1456C>T (p.Arg486Ter)
NM_015374.3(SUN2):c.1510G>C (p.Ala504Pro)
NM_015374.3(SUN2):c.1523C>T (p.Ala508Val)
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.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.2077C>T (p.Arg693Trp)
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.2149C>G (p.His717Asp)
NM_015374.3(SUN2):c.2151C>A (p.His717Gln) rs917841252
NM_015374.3(SUN2):c.823C>T (p.Arg275Cys)
NM_015374.3(SUN2):c.853C>T (p.Arg285Trp)
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.976G>A (p.Glu326Lys)
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)

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