ClinVar Miner

List of variants in gene MAG reported as uncertain significance for complex hereditary spastic paraplegia

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_002361.4(MAG):c.439C>G (p.Pro147Ala) rs202205105 0.00040
NM_002361.4(MAG):c.1117A>C (p.Ser373Arg) rs142375870 0.00022
NM_002361.4(MAG):c.1405G>C (p.Val469Leu) rs200754835 0.00016
NM_002361.4(MAG):c.1120G>A (p.Glu374Lys) rs201059845 0.00013
NM_002361.4(MAG):c.940G>T (p.Asp314Tyr) rs202087211 0.00013
NM_002361.4(MAG):c.1274G>A (p.Arg425Gln) rs144213585 0.00012
NM_002361.4(MAG):c.1292T>A (p.Leu431Gln) rs199969989 0.00011
NM_002361.4(MAG):c.1562T>G (p.Val521Gly) rs200859403 0.00011
NM_002361.4(MAG):c.1813C>T (p.Arg605Trp) rs73031735 0.00011
NM_002361.4(MAG):c.325C>A (p.Pro109Thr) rs746889149 0.00009
NM_002361.4(MAG):c.1394G>A (p.Arg465His) rs147583558 0.00008
NM_002361.4(MAG):c.685G>C (p.Glu229Gln) rs202166521 0.00007
NM_002361.4(MAG):c.1666G>A (p.Val556Ile) rs201689297 0.00006
NM_002361.4(MAG):c.1719C>T (p.Ser573=) rs201985838 0.00006
NM_002361.4(MAG):c.1782C>A (p.Asp594Glu) rs200067189 0.00006
NM_002361.4(MAG):c.319G>A (p.Val107Ile) rs186777043 0.00004
NM_002361.4(MAG):c.415+4A>C rs769703123 0.00004
NM_002361.4(MAG):c.1468G>A (p.Ala490Thr) rs202083530 0.00003
NM_002361.4(MAG):c.1688G>A (p.Arg563His) rs138056630 0.00003
NM_002361.4(MAG):c.646G>T (p.Gly216Cys) rs200984385 0.00003
NM_002361.4(MAG):c.688G>A (p.Gly230Ser) rs765954040 0.00003
NM_002361.4(MAG):c.1456G>A (p.Val486Ile) rs142036180 0.00002
NM_002361.4(MAG):c.1760G>A (p.Arg587Gln) rs201094395 0.00002
NM_002361.4(MAG):c.1777C>G (p.Leu593Val) rs752836680 0.00002
NM_002361.4(MAG):c.1000A>T (p.Thr334Ser) rs763171002 0.00001
NM_002361.4(MAG):c.1017G>T (p.Glu339Asp) rs750691038 0.00001
NM_002361.4(MAG):c.1138C>T (p.Pro380Ser) rs201899456 0.00001
NM_002361.4(MAG):c.1265C>T (p.Ala422Val) rs1456256662 0.00001
NM_002361.4(MAG):c.1270G>A (p.Ala424Thr) rs1434326122 0.00001
NM_002361.4(MAG):c.127C>T (p.Arg43Cys) rs745533880 0.00001
NM_002361.4(MAG):c.1393C>T (p.Arg465Cys) rs2066514711 0.00001
NM_002361.4(MAG):c.157G>A (p.Ala53Thr) rs759758253 0.00001
NM_002361.4(MAG):c.1646C>T (p.Ser549Leu) rs767886169 0.00001
NM_002361.4(MAG):c.1681G>A (p.Asp561Asn) rs201165241 0.00001
NM_002361.4(MAG):c.252C>A (p.Ser84Arg) rs763042714 0.00001
NM_002361.4(MAG):c.569G>A (p.Arg190Gln) rs760694257 0.00001
NM_002361.4(MAG):c.61C>T (p.His21Tyr) rs370825816 0.00001
NM_002361.4(MAG):c.668A>G (p.Asn223Ser) rs1471804208 0.00001
NM_002361.4(MAG):c.699C>G (p.Ser233Arg) rs1348797051 0.00001
NM_002361.4(MAG):c.899A>G (p.Asp300Gly) rs1216189764 0.00001
NM_002361.4(MAG):c.997G>A (p.Gly333Arg) rs199764089 0.00001
NM_002361.4(MAG):c.1025C>T (p.Thr342Met)
NM_002361.4(MAG):c.1058C>T (p.Pro353Leu) rs778356275
NM_002361.4(MAG):c.105C>T (p.Gly35=)
NM_002361.4(MAG):c.1139C>G (p.Pro380Arg) rs369453547
NM_002361.4(MAG):c.1144G>T (p.Val382Leu) rs751480059
NM_002361.4(MAG):c.1156G>A (p.Asp386Asn)
NM_002361.4(MAG):c.116C>T (p.Ser39Phe) rs201798784
NM_002361.4(MAG):c.1193A>G (p.Tyr398Cys) rs2145615651
NM_002361.4(MAG):c.1246C>T (p.Leu416Phe)
NM_002361.4(MAG):c.128G>A (p.Arg43His)
NM_002361.4(MAG):c.1297G>A (p.Val433Met)
NM_002361.4(MAG):c.1324G>A (p.Val442Met) rs760644405
NM_002361.4(MAG):c.1387T>G (p.Ser463Ala)
NM_002361.4(MAG):c.1520-3_1520-2del
NM_002361.4(MAG):c.1523_1530del (p.Arg508fs)
NM_002361.4(MAG):c.152G>A (p.Arg51Gln)
NM_002361.4(MAG):c.1568T>C (p.Phe523Ser)
NM_002361.4(MAG):c.1576_1587dup (p.Ile529_Val530insLeuIleAlaIle)
NM_002361.4(MAG):c.1603C>G (p.Gln535Glu)
NM_002361.4(MAG):c.1687C>T (p.Arg563Cys)
NM_002361.4(MAG):c.1714G>A (p.Glu572Lys) rs1286617721
NM_002361.4(MAG):c.1727G>A (p.Arg576His)
NM_002361.4(MAG):c.1759C>T (p.Arg587Trp)
NM_002361.4(MAG):c.1811A>G (p.Lys604Arg)
NM_002361.4(MAG):c.1820C>A (p.Thr607Asn)
NM_002361.4(MAG):c.1831T>C (p.Tyr611His) rs376265373
NM_002361.4(MAG):c.1835C>T (p.Thr612Met)
NM_002361.4(MAG):c.185A>G (p.Asn62Ser)
NM_002361.4(MAG):c.230G>T (p.Arg77Leu)
NM_002361.4(MAG):c.268C>T (p.Arg90Cys)
NM_002361.4(MAG):c.269G>A (p.Arg90His)
NM_002361.4(MAG):c.318C>A (p.Asn106Lys)
NM_002361.4(MAG):c.328G>T (p.Glu110Ter) rs770788013
NM_002361.4(MAG):c.329A>C (p.Glu110Ala)
NM_002361.4(MAG):c.367G>A (p.Gly123Ser)
NM_002361.4(MAG):c.400G>A (p.Val134Ile)
NM_002361.4(MAG):c.40A>G (p.Ile14Val)
NM_002361.4(MAG):c.430G>T (p.Val144Leu)
NM_002361.4(MAG):c.46+5C>A rs200192210
NM_002361.4(MAG):c.46+6G>A
NM_002361.4(MAG):c.468G>C (p.Glu156Asp)
NM_002361.4(MAG):c.481G>C (p.Val161Leu) rs770946769
NM_002361.4(MAG):c.513G>T (p.Glu171Asp)
NM_002361.4(MAG):c.541G>T (p.Gly181Trp) rs2066431561
NM_002361.4(MAG):c.562C>T (p.Arg188Trp) rs2145611265
NM_002361.4(MAG):c.580G>A (p.Gly194Ser)
NM_002361.4(MAG):c.601C>G (p.Leu201Val)
NM_002361.4(MAG):c.608A>G (p.His203Arg)
NM_002361.4(MAG):c.619A>G (p.Thr207Ala)
NM_002361.4(MAG):c.694G>A (p.Ala232Thr)
NM_002361.4(MAG):c.706G>A (p.Val236Ile)
NM_002361.4(MAG):c.719dup (p.Val241fs) rs770601245
NM_002361.4(MAG):c.752C>T (p.Ala251Val)
NM_002361.4(MAG):c.760G>A (p.Gly254Ser)
NM_002361.4(MAG):c.785G>A (p.Gly262Glu)
NM_002361.4(MAG):c.795C>A (p.Ser265Arg) rs2066438141
NM_002361.4(MAG):c.850G>A (p.Val284Met)
NM_002361.4(MAG):c.920C>T (p.Ala307Val)
NM_002361.4(MAG):c.947G>T (p.Arg316Leu) rs370453303
NM_002361.4(MAG):c.970+3G>A

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