ClinVar Miner

List of variants reported as pathogenic for cerebral lipidosis with dementia by Myriad Genetics, Inc.

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
GRCh37/hg19 15q23(chr15:72662932-72670877)
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260

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