ClinVar Miner

List of variants reported as likely pathogenic for cerebral lipidosis with dementia by Baylor Genetics

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) rs150519745 0.00005
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe) rs374591570 0.00003
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys) rs1264734195 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) rs1398584213 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_001042432.2(CLN3):c.125+5G>A rs386833704 0.00001
NM_001042432.2(CLN3):c.461-1G>T rs386833722 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.963-1G>A rs386833742 0.00001
NM_018941.4(CLN8):c.209G>A (p.Arg70His) rs386834124 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu) rs398123527
NM_000157.4(GBA1):c.1388+2T>C rs1571965880
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA1):c.509G>A (p.Arg170His) rs80356763
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala) rs770796008
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn) rs74731340
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1017+1del rs1559392904
NM_000784.4(CYP27A1):c.1018-1G>C rs1575206658
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)
NM_000784.4(CYP27A1):c.1477-1G>A
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.20del (p.Ala7fs)
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.845-46_881del
NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.2(CLN3):c.1055dup (p.Cys353fs)
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_001042432.2(CLN3):c.1075del (p.Leu359fs) rs2046023126
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
NM_001042432.2(CLN3):c.1197+1G>A
NM_001042432.2(CLN3):c.125+2T>C
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
NM_001042432.2(CLN3):c.250del (p.His84fs)
NM_001042432.2(CLN3):c.363dup (p.Leu122fs)
NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)
NM_001042432.2(CLN3):c.375-2del
NM_001042432.2(CLN3):c.379dup (p.Arg127fs)
NM_001042432.2(CLN3):c.419del (p.Val140fs)
NM_001042432.2(CLN3):c.46+1G>A rs1057516343
NM_001042432.2(CLN3):c.461-3C>G rs181995380
NM_001042432.2(CLN3):c.467del (p.Val156fs)
NM_001042432.2(CLN3):c.47-2del
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
NM_001042432.2(CLN3):c.555del (p.Ser186fs)
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_001042432.2(CLN3):c.639del (p.Leu214fs) rs2046218391
NM_001042432.2(CLN3):c.677+1G>T rs1057517287
NM_001042432.2(CLN3):c.678-1_680del
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter) rs2046158549
NM_001042432.2(CLN3):c.790+1del rs1555468374
NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)
NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)
NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer)
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe) rs386833744
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs) rs2046109345

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