List of variants in gene DHCR24 reported as pathogenic for desmosterolosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014762.4(DHCR24):c.1438G>A (p.Glu480Lys)	rs387906940	0.00001
NM_014762.4(DHCR24):c.281G>A (p.Arg94His)	rs387906939	0.00001
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)	rs119475041	0.00001
NM_014762.3(DHCR24):c.[881A>C,918G>C]
NM_014762.4(DHCR24):c.1412A>C (p.Tyr471Ser)	rs28939092
NM_014762.4(DHCR24):c.307C>T (p.Arg103Cys)	rs387906938

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