ClinVar Miner

List of variants studied for cerebral lipidosis with dementia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000391.4(TPP1):c.843G>A (p.Met281Ile) rs776489592
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000521.4(HEXB):c.1474T>A (p.Tyr492Asn)
NM_000521.4(HEXB):c.1478_1479del (p.Val493fs)
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_003793.4(CTSF):c.1069T>C (p.Tyr357His)
NM_003793.4(CTSF):c.1399C>T (p.Arg467Cys)

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