ClinVar Miner

List of variants reported as pathogenic for Neurodegeneration with brain iron accumulation 5

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Total variants: 90
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_48932442)_(48935774_?)del
NC_000023.10:g.(?_48932462)_(48935755_?)del
NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs) rs387907328
NM_001029896.2(WDR45):c.1005T>A (p.Tyr335Ter) rs781972464
NM_001029896.2(WDR45):c.1005T>G (p.Tyr335Ter) rs781972464
NM_001029896.2(WDR45):c.1010_1011del (p.Phe337fs)
NM_001029896.2(WDR45):c.1029dup (p.Asn344fs) rs2065026848
NM_001029896.2(WDR45):c.1036G>T (p.Glu346Ter) rs1602537159
NM_001029896.2(WDR45):c.1037_1038del (p.Glu346fs) rs2147814431
NM_001029896.2(WDR45):c.109_110insACCT (p.Leu37fs)
NM_001029896.2(WDR45):c.10C>T (p.Gln4Ter) rs2065048388
NM_001029896.2(WDR45):c.130+1G>C rs2147817628
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys) rs2065045729
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001029896.2(WDR45):c.1A>G (p.Met1Val) rs2065048490
NM_001029896.2(WDR45):c.200del (p.Gly67fs)
NM_001029896.2(WDR45):c.209del (p.Ser70fs) rs2147817417
NM_001029896.2(WDR45):c.210_213dup (p.Pro72Ter) rs1569523537
NM_001029896.2(WDR45):c.226G>T (p.Glu76Ter) rs2147817379
NM_001029896.2(WDR45):c.226_230del (p.Glu76fs) rs2065045334
NM_001029896.2(WDR45):c.228_229del (p.Glu76fs)
NM_001029896.2(WDR45):c.235+159C>G rs1602540060
NM_001029896.2(WDR45):c.235+1G>A rs2065045269
NM_001029896.2(WDR45):c.235+2T>G rs1602540211
NM_001029896.2(WDR45):c.235+5G>A rs2065045234
NM_001029896.2(WDR45):c.236-21A>G rs2147816654
NM_001029896.2(WDR45):c.2T>C (p.Met1Thr) rs1569523565
NM_001029896.2(WDR45):c.332_338del (p.Arg111fs) rs2147816498
NM_001029896.2(WDR45):c.342-2A>C rs1602539140
NM_001029896.2(WDR45):c.342-3C>G rs2147816332
NM_001029896.2(WDR45):c.371_372del (p.Tyr124fs) rs2065038463
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.406_409del (p.Phe136fs)
NM_001029896.2(WDR45):c.408dup (p.Glu137Ter) rs1557084239
NM_001029896.2(WDR45):c.434dup (p.Leu147fs) rs387907331
NM_001029896.2(WDR45):c.437-2A>C rs886041693
NM_001029896.2(WDR45):c.437-4_437-2delinsT rs1602538379
NM_001029896.2(WDR45):c.457del (p.Ser153fs) rs2065034268
NM_001029896.2(WDR45):c.488del (p.Gly163fs)
NM_001029896.2(WDR45):c.490_493del (p.His164fs)
NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter) rs1557084120
NM_001029896.2(WDR45):c.510dup (p.Leu171fs) rs2065033946
NM_001029896.2(WDR45):c.516+1G>A rs797046102
NM_001029896.2(WDR45):c.516+1G>T rs797046102
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001029896.2(WDR45):c.516+1del
NM_001029896.2(WDR45):c.516G>C (p.Val172=) rs387907330
NM_001029896.2(WDR45):c.517-2A>G rs1602538148
NM_001029896.2(WDR45):c.55+2_55+3del rs1057519622
NM_001029896.2(WDR45):c.56-2A>G rs1602540595
NM_001029896.2(WDR45):c.584_585del (p.Ile195fs) rs886041381
NM_001029896.2(WDR45):c.599dup (p.Asn201fs) rs1557084066
NM_001029896.2(WDR45):c.604C>T (p.Gln202Ter) rs2065032542
NM_001029896.2(WDR45):c.604del (p.Gln202fs) rs2147815446
NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp) rs878855326
NM_001029896.2(WDR45):c.618dup (p.Val207fs)
NM_001029896.2(WDR45):c.626C>G (p.Ser209Ter)
NM_001029896.2(WDR45):c.634C>T (p.Gln212Ter) rs387907332
NM_001029896.2(WDR45):c.64del (p.Cys22fs)
NM_001029896.2(WDR45):c.659_660del (p.Leu219_Phe220insTer) rs2065032149
NM_001029896.2(WDR45):c.667C>T (p.Gln223Ter)
NM_001029896.2(WDR45):c.667_668del (p.Gln223fs) rs886041994
NM_001029896.2(WDR45):c.673A>T (p.Lys225Ter)
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) rs387907329
NM_001029896.2(WDR45):c.725+2T>A
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001029896.2(WDR45):c.785A>C (p.His262Pro) rs2147815135
NM_001029896.2(WDR45):c.787_790dup (p.Phe264fs)
NM_001029896.2(WDR45):c.787_800del (p.Ile263fs) rs2065030871
NM_001029896.2(WDR45):c.78_79del (p.Glu26fs) rs2147817681
NM_001029896.2(WDR45):c.797_798del (p.Leu266fs) rs2147815120
NM_001029896.2(WDR45):c.827+1G>A rs1557083958
NM_001029896.2(WDR45):c.827+1G>C rs1557083958
NM_001029896.2(WDR45):c.827+1G>T rs1557083958
NM_001029896.2(WDR45):c.827+2_827+3del rs797046103
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001029896.2(WDR45):c.827+5G>C rs1557083956
NM_001029896.2(WDR45):c.827+5G>T
NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter) rs2065029414
NM_001029896.2(WDR45):c.865_874del (p.Gln289fs)
NM_001029896.2(WDR45):c.870C>G (p.Tyr290Ter) rs782557596
NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)
NM_001029896.2(WDR45):c.880del (p.Gln294fs) rs2147814875
NM_001029896.2(WDR45):c.891_892insT (p.Ala298fs) rs2147814859
NM_001029896.2(WDR45):c.905_906del (p.Val302fs)
NM_001029896.2(WDR45):c.922_928del (p.Cys308fs)
NM_001029896.2(WDR45):c.938del (p.Gly313fs) rs2147814810
NM_001029896.2(WDR45):c.966dup (p.Val323fs) rs797046105
NM_001029896.2(WDR45):c.973+1G>A rs869312661
NM_001029896.2(WDR45):c.974-1G>A rs1557083830

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