List of variants in gene DHCR24 reported as likely pathogenic for cholesterol metabolism disease

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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.1504G>A (p.Ala502Thr)	rs915474087	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_014762.4(DHCR24):c.1412A>C (p.Tyr471Ser)	rs28939092
NM_014762.4(DHCR24):c.1532G>A (p.Cys511Tyr)	rs200415528
NM_014762.4(DHCR24):c.958G>T (p.Glu320Ter)	rs1646962392

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