ClinVar Miner

List of variants reported as likely benign for adult Refsum disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_006214.4(PHYH):c.678+15C>T rs140995522 0.00717
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501 0.00371
NM_006214.4(PHYH):c.*22T>G rs186628076 0.00370
NM_006214.4(PHYH):c.*47G>A rs180770135 0.00192
NM_000288.4(PEX7):c.*38G>A rs41288965 0.00188
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
NM_000288.4(PEX7):c.*115A>G rs41288967 0.00006
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769

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