ClinVar Miner

List of variants studied for disorder of plasmalogens biosynthesis by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) rs376679623 0.00011
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1819dup (p.Leu607fs)
NM_014236.4(GNPAT):c.2010del (p.Pro671fs)
NM_014236.4(GNPAT):c.569-3T>G rs745869264

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