ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 1 by Invitae

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ClinVar version:
Total variants: 115
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HGVS dbSNP
NC_000001.10:g.(?_40539713)_(40562930_?)dup
NC_000001.11:g.(?_40089400)_(40097248_?)del
NC_000001.11:g.40074183del
NM_000310.3(PPT1):c.124+2TGAG[2] rs768863525
NM_000310.3(PPT1):c.124+6T>C rs759641557
NM_000310.3(PPT1):c.147A>C (p.Leu49Phe) rs781048683
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175G>A (p.Glu59Lys) rs750533343
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.17G>A (p.Cys6Tyr) rs202241486
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.225C>T (p.Thr75=) rs1477732757
NM_000310.3(PPT1):c.234+1G>A rs796052923
NM_000310.3(PPT1):c.234+6G>A rs587781122
NM_000310.3(PPT1):c.234+7C>T rs200777536
NM_000310.3(PPT1):c.239T>G (p.Val80Gly) rs762619451
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.282A>G (p.Thr94=) rs753828114
NM_000310.3(PPT1):c.283G>A (p.Val95Met) rs932228782
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.2T>C (p.Met1Thr) rs796052927
NM_000310.3(PPT1):c.310A>G (p.Lys104Glu) rs386833641
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) rs142894102
NM_000310.3(PPT1):c.362+4C>T rs534592472
NM_000310.3(PPT1):c.363-5C>T rs112553480
NM_000310.3(PPT1):c.363G>T (p.Leu121=) rs201820661
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.367G>A (p.Ala123Thr) rs755565099
NM_000310.3(PPT1):c.38C>G (p.Ala13Gly) rs1057515557
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.426A>G (p.Gln142=) rs759480265
NM_000310.3(PPT1):c.433+5C>A rs1553167414
NM_000310.3(PPT1):c.445C>A (p.Leu149Ile) rs775899980
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.509G>A (p.Gly170Glu) rs1553167257
NM_000310.3(PPT1):c.513G>A (p.Ala171=) rs150924738
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000310.3(PPT1):c.536+5G>T rs1208757133
NM_000310.3(PPT1):c.536G>A (p.Arg179His) rs370069880
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.543G>A (p.Val181=) rs374121503
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.572A>C (p.Lys191Thr) rs1557708208
NM_000310.3(PPT1):c.574G>A (p.Glu192Lys) rs1557708202
NM_000310.3(PPT1):c.586C>T (p.Arg196Cys) rs376715840
NM_000310.3(PPT1):c.587G>A (p.Arg196His) rs939858453
NM_000310.3(PPT1):c.59C>T (p.Ala20Val) rs1187613034
NM_000310.3(PPT1):c.627+1G>T rs1265044710
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000310.3(PPT1):c.627+9C>T rs368895182
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.628G>C (p.Gly210Arg) rs200434104
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs) rs1302326945
NM_000310.3(PPT1):c.646A>G (p.Lys216Glu) rs766163400
NM_000310.3(PPT1):c.651A>G (p.Lys217=) rs1553166517
NM_000310.3(PPT1):c.676G>A (p.Val226Met) rs375190067
NM_000310.3(PPT1):c.71T>C (p.Leu24Pro) rs746667989
NM_000310.3(PPT1):c.722C>T (p.Ser241Leu) rs746043871
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000310.3(PPT1):c.762A>C (p.Glu254Asp) rs146002450
NM_000310.3(PPT1):c.769C>A (p.Pro257Thr) rs201313087
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_000310.3(PPT1):c.798+8G>A rs368106574
NM_000310.3(PPT1):c.802C>T (p.Arg268Cys) rs200813294
NM_000310.3(PPT1):c.803G>A (p.Arg268His) rs763536047
NM_000310.3(PPT1):c.810G>A (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.810G>C (p.Gly270=) rs371213189
NM_000310.3(PPT1):c.817G>A (p.Glu273Lys) rs1193191643
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000310.3(PPT1):c.856G>A (p.Glu286Lys) rs141405110
NM_000310.3(PPT1):c.875T>C (p.Leu292Ser) rs199708990
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.3(PPT1):c.914T>G (p.Leu305Arg) rs386833671
NM_000310.4(PPT1):c.102del (p.Leu35fs)
NM_000310.4(PPT1):c.124+1215_235-103del
NM_000310.4(PPT1):c.124G>A (p.Gly42Arg)
NM_000310.4(PPT1):c.150C>T (p.Ser50=)
NM_000310.4(PPT1):c.218G>C (p.Gly73Ala)
NM_000310.4(PPT1):c.238G>A (p.Val80Met)
NM_000310.4(PPT1):c.265A>G (p.Asn89Asp)
NM_000310.4(PPT1):c.289_290del (p.Gln97fs)
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000310.4(PPT1):c.40C>G (p.Leu14Val)
NM_000310.4(PPT1):c.40C>T (p.Leu14Phe)
NM_000310.4(PPT1):c.416T>C (p.Val139Ala)
NM_000310.4(PPT1):c.452G>A (p.Arg151Gln)
NM_000310.4(PPT1):c.49T>G (p.Trp17Gly)
NM_000310.4(PPT1):c.518C>T (p.Ser173Phe)
NM_000310.4(PPT1):c.520A>G (p.Lys174Glu)
NM_000310.4(PPT1):c.537-16dup rs760997725
NM_000310.4(PPT1):c.583T>G (p.Tyr195Asp)
NM_000310.4(PPT1):c.628-10T>C rs557560550
NM_000310.4(PPT1):c.634A>T (p.Asn212Tyr)
NM_000310.4(PPT1):c.657G>C (p.Leu219=) rs773591614
NM_000310.4(PPT1):c.6del (p.Ser3fs) rs1570476221
NM_000310.4(PPT1):c.723G>A (p.Ser241=) rs778863462
NM_000310.4(PPT1):c.727-1G>A
NM_000310.4(PPT1):c.732T>C (p.Phe244=) rs559580128
NM_000310.4(PPT1):c.733G>C (p.Gly245Arg)
NM_000310.4(PPT1):c.749G>A (p.Gly250Asp)
NM_000310.4(PPT1):c.750C>A (p.Gly250=) rs1244256818
NM_000310.4(PPT1):c.832G>A (p.Gly278Arg)
NM_000310.4(PPT1):c.84C>G (p.Asp28Glu)
NM_000310.4(PPT1):c.850G>C (p.Ala284Pro)
NM_000310.4(PPT1):c.878C>T (p.Ser293Phe)
NM_000310.4(PPT1):c.896C>T (p.Ala299Val)
NM_000310.4(PPT1):c.908C>T (p.Pro303Leu)
NM_000310.4(PPT1):c.909A>G (p.Pro303=) rs1570448364
NM_001142604.2(PPT1):c.125-2560_125-2559del rs1570470281
NM_001142604.2(PPT1):c.125-2646CTT[2] rs386833637

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