ClinVar Miner

List of variants reported as likely benign for cerebral lipidosis with dementia by Counsyl

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000520.6(HEXA):c.253+5074C>T rs149661366 0.00322
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_000520.6(HEXA):c.1146+8G>A rs201453018 0.00167
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000520.6(HEXA):c.1074-100T>C rs868411141 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000520.6(HEXA):c.1073+51G>A rs545676277 0.00016
NM_000520.6(HEXA):c.253+5107G>A rs748336538 0.00013
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972 0.00005
NM_000520.6(HEXA):c.1074-86G>A rs1050913691 0.00001
NM_000520.6(HEXA):c.1421+13G>A rs375201437 0.00001
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328 0.00001
NM_000391.4(TPP1):c.1267-56_1267-37del rs1554901606
NM_000520.6(HEXA):c.1421+11del rs922064515
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+15G>T rs185764548
NM_001042432.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_001042432.2(CLN3):c.963-63_963-44dup rs1555468153
NM_018941.4(CLN8):c.507C>T (p.Ser169=) rs386834131

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