List of variants studied for inborn mitochondrial metabolism disorder by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	rs536758576	0.00009
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236	0.00002
NM_002693.3(POLG):c.2620T>A (p.Leu874Met)	rs758402960	0.00001
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_002693.3(POLG):c.3482+6C>T	rs55779802
NM_020247.5(COQ8A):c.1088dup (p.Val364fs)
NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)	rs730882246

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