ClinVar Miner

List of variants studied for sterol biosynthesis disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) rs1602937895

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