List of variants reported as pathogenic for autosomal recessive disease by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	rs121913578	0.00009
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	rs145034527	0.00004
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs)	rs1666006480
NM_000254.3(MTR):c.609+1088G>A	rs752526782
NM_000271.5(NPC1):c.2374-1G>A	rs2145381556
NM_000277.3(PAH):c.473G>C (p.Arg158Pro)	rs5030843
NM_000466.3(PEX1):c.2719-1G>T
NM_006721.4(ADK):c.953C>A (p.Ala318Glu)	rs397514452
NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)	rs767871841
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)	rs2137580127
NM_020247.5(COQ8A):c.1579dup (p.Arg527fs)
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)	rs111033379

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