ClinVar Miner

List of variants studied for peroxisomal disease by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000030.3(AGXT):c.596-1G>A
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
NM_001127649.3(PEX26):c.34del (p.Leu12fs) rs61752129
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro) rs1473197986
NM_004813.4(PEX16):c.952+3A>G

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