ClinVar Miner

List of variants studied for peroxisomal disease by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.98T>G (p.Leu33Arg) rs1643271090 0.00001
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser) rs1002618350 0.00001
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser) rs782492154
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg) rs1557054776
NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup) rs2091774003
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) rs1603236086
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro) rs781904944
NM_000286.3(PEX12):c.430T>C (p.Ser144Pro) rs2072791318
NM_000287.4(PEX6):c.231C>A (p.Ser77Arg) rs1770437263
NM_000414.4(HSD17B4):c.1414_1416del (p.Lys472del) rs1751942272
NM_002617.4(PEX10):c.530T>G (p.Leu177Arg) rs1643082013
NM_002618.4(PEX13):c.529_531del (p.Lys177del) rs1680456530

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