ClinVar Miner

List of variants in gene SCARB2 reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005506.4(SCARB2):c.1016dup (p.His341fs) rs886041077
NM_005506.4(SCARB2):c.1087C>A (p.His363Asn) rs758857853
NM_005506.4(SCARB2):c.1114-2A>C rs727502781
NM_005506.4(SCARB2):c.111del (p.Ile37fs) rs886041072
NM_005506.4(SCARB2):c.1187+2dup rs727502783
NM_005506.4(SCARB2):c.1239+1G>T rs727502772
NM_005506.4(SCARB2):c.1258del (p.Glu420fs) rs727502782
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078
NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs) rs886041079
NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly) rs755903502
NM_005506.4(SCARB2):c.296del (p.Asn99fs) rs886041073
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.4(SCARB2):c.367dup (p.Gln123fs) rs1553948516
NM_005506.4(SCARB2):c.424-2A>C rs886041074
NM_005506.4(SCARB2):c.432_433AG[3] (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) rs886041075
NM_005506.4(SCARB2):c.704+1G>A rs886041076
NM_005506.4(SCARB2):c.704+1G>C rs886041076
NM_005506.4(SCARB2):c.704+5G>A rs774271963
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118

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