ClinVar Miner

List of variants reported as pathogenic for Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) rs1303653650 0.00001
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs) rs2076962370 0.00001
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter) rs2076949269 0.00001
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) rs866035312 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter) rs1334843918 0.00001
NC_000001.10:g.(?_17316166)_(17332293_?)del
NC_000001.10:g.(?_17330807)_(17332293_?)del
NC_000001.11:g.(?_16991714)_(16992601_?)del
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs) rs2523962293
NM_022089.4(ATP13A2):c.1113del (p.His372fs) rs1377055875
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs) rs2523638610
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs) rs2523608853
NM_022089.4(ATP13A2):c.1382del (p.Ala461fs)
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter) rs2523315114
NM_022089.4(ATP13A2):c.1970del (p.Pro657fs)
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter) rs774115028
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter) rs1468568465
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer) rs2100768788
NM_022089.4(ATP13A2):c.217del (p.Val73fs) rs1389678247
NM_022089.4(ATP13A2):c.217dup (p.Val73fs) rs1389678247
NM_022089.4(ATP13A2):c.2366_2367del (p.Leu789fs)
NM_022089.4(ATP13A2):c.2539C>T (p.Gln847Ter)
NM_022089.4(ATP13A2):c.2587del (p.Val863fs) rs2523049776
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter) rs1557666781
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs) rs747617559
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs) rs1570759415
NM_022089.4(ATP13A2):c.379del (p.Asp127fs)
NM_022089.4(ATP13A2):c.409del (p.Val137fs) rs2077487643
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs) rs2524336523
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs) rs2524203249
NM_022089.4(ATP13A2):c.604del (p.His202fs) rs758150853
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter) rs1483668823
NM_022089.4(ATP13A2):c.965del (p.Gln322fs) rs2523972211

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