ClinVar Miner

List of variants studied for peroxisomal disease by Suma Genomics

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.36dup (p.Asn13fs) rs1603231653
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys) rs2126780758
NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser) rs886037861

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