List of variants reported as uncertain significance for autosomal dominant cerebellar ataxia by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 102

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HGVS	dbSNP	gnomAD frequency
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)	rs142744204	0.00034
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)	rs35027371	0.00016
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)	rs200212002	0.00007
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)	rs774713377	0.00006
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)	rs186194682	0.00005
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)	rs149344567	0.00005
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)	rs151164490	0.00004
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)	rs199637120	0.00003
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)	rs774711788	0.00003
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr)	rs143933558	0.00003
NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln)	rs764928165	0.00002
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)	rs760907112	0.00002
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr)	rs149488365	0.00002
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His)	rs760274429	0.00001
NM_001378969.1(KCND3):c.1313C>G (p.Ser438Trp)	rs1172444288	0.00001
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val)	rs1245864814	0.00001
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg)	rs1571626155	0.00001
NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly)	rs1216457569	0.00001
NM_001378969.1(KCND3):c.1525G>A (p.Glu509Lys)	rs760468985	0.00001
NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile)	rs969494348	0.00001
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys)	rs778141653	0.00001
NM_001378969.1(KCND3):c.1697G>A (p.Arg566His)	rs761867267	0.00001
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val)	rs948125814	0.00001
NM_001378969.1(KCND3):c.1859C>A (p.Pro620His)	rs758318696	0.00001
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala)	rs752495973	0.00001
NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser)	rs1417756814	0.00001
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg)	rs372362132	0.00001
NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser)	rs766562520	0.00001
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn)	rs766584545	0.00001
NM_001378969.1(KCND3):c.622G>A (p.Gly208Ser)	rs760097003	0.00001
NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr)	rs373756710	0.00001
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp)	rs1307934269	0.00001
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val)	rs760460512	0.00001
NC_000001.10:g.(?_112524223)_(112525348_?)dup
NM_001378969.1(KCND3):c.1017G>A (p.Met339Ile)	rs965641511
NM_001378969.1(KCND3):c.1040C>T (p.Ser347Leu)
NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp)	rs867628133
NM_001378969.1(KCND3):c.110G>C (p.Arg37Pro)	rs1675021542
NM_001378969.1(KCND3):c.1269+6C>T	rs1060502174
NM_001378969.1(KCND3):c.1292G>C (p.Arg431Pro)
NM_001378969.1(KCND3):c.1292G>T (p.Arg431Leu)	rs771703569
NM_001378969.1(KCND3):c.1336C>T (p.Arg446Cys)	rs756087542
NM_001378969.1(KCND3):c.1339A>G (p.Asn447Asp)	rs1571626928
NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe)
NM_001378969.1(KCND3):c.1351A>C (p.Asn451His)
NM_001378969.1(KCND3):c.1352A>G (p.Asn451Ser)
NM_001378969.1(KCND3):c.1369A>G (p.Thr457Ala)
NM_001378969.1(KCND3):c.1371+4G>C
NM_001378969.1(KCND3):c.1371+5G>T	rs1178012198
NM_001378969.1(KCND3):c.1372G>A (p.Gly458Ser)
NM_001378969.1(KCND3):c.1384G>A (p.Glu462Lys)
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys)	rs1571626257
NM_001378969.1(KCND3):c.1406C>T (p.Thr469Ile)
NM_001378969.1(KCND3):c.1418A>T (p.Glu473Val)	rs2101469294
NM_001378969.1(KCND3):c.1441C>A (p.His481Asn)
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys)	rs976664434
NM_001378969.1(KCND3):c.1518+4T>C	rs1553235925
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala)	rs1664166577
NM_001378969.1(KCND3):c.1544T>C (p.Met515Thr)
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)
NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg)	rs1338355211
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr)	rs1447493103
NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu)	rs1553235768
NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser)	rs2101456436
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr)	rs1553235743
NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val)
NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys)	rs1420542041
NM_001378969.1(KCND3):c.1745A>G (p.Glu582Gly)	rs2101456005
NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe)
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)	rs778053688
NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys)	rs903701604
NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp)	rs1483036958
NM_001378969.1(KCND3):c.1829T>C (p.Ile610Thr)
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)
NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu)
NM_001378969.1(KCND3):c.1873C>T (p.Pro625Ser)	rs2101452061
NM_001378969.1(KCND3):c.1885A>T (p.Ser629Cys)	rs1435444967
NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu)	rs1261735013
NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe)	rs754759010
NM_001378969.1(KCND3):c.1934T>C (p.Ile645Thr)	rs1557929628
NM_001378969.1(KCND3):c.218T>A (p.Phe73Tyr)
NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly)	rs754042199
NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala)	rs1675001550
NM_001378969.1(KCND3):c.436C>T (p.Arg146Trp)	rs575658111
NM_001378969.1(KCND3):c.446A>G (p.Asp149Gly)	rs1217571134
NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn)	rs1488410733
NM_001378969.1(KCND3):c.478A>G (p.Met160Val)	rs901416743
NM_001378969.1(KCND3):c.509G>T (p.Trp170Leu)
NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln)
NM_001378969.1(KCND3):c.551T>C (p.Val184Ala)	rs2101997398
NM_001378969.1(KCND3):c.566C>G (p.Thr189Ser)
NM_001378969.1(KCND3):c.668C>T (p.Ser223Leu)
NM_001378969.1(KCND3):c.685C>G (p.Leu229Val)
NM_001378969.1(KCND3):c.715G>C (p.Val239Leu)	rs2101996463
NM_001378969.1(KCND3):c.739G>T (p.Ala247Ser)
NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr)	rs1675024873
NM_001378969.1(KCND3):c.878G>A (p.Arg293His)	rs1674965278
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp)	rs2101995501
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser)	rs1403997481
NM_001378969.1(KCND3):c.930G>A (p.Leu310=)	rs577883061

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