ClinVar Miner

List of variants reported as pathogenic for Danon disease by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
LAMP2, 1-BP DEL, 1219A
LAMP2, 1-BP INS, 974A
LAMP2, 2-BP DEL, 1097AA
NM_002294.2(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_002294.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.2(LAMP2):c.741+1G>A rs1251075016
NM_002294.2(LAMP2):c.864+5G>C rs1352584474
NM_002294.2(LAMP2):c.883dup (p.Tyr295fs) rs1327363415
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.2(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_013995.2(LAMP2):c.14del (p.Arg5fs) rs1183994410
NM_013995.2(LAMP2):c.36_42del (p.Gly13fs) rs1436181133

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