List of variants reported as likely pathogenic by Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005006.7(NDUFS1):c.1285G>A (p.Val429Met)	rs200397416	0.00002
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)	rs566580738	0.00001
NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn)	rs1171276645	0.00001
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)	rs1557054776
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)	rs1603236086
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)	rs781904944
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met)	rs2091726242
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)	rs753232669
NM_000153.4(GALC):c.830G>A (p.Ser277Asn)	rs1886145312
NM_000404.4(GLB1):c.416T>A (p.Leu139Gln)	rs1699766499
NM_003850.3(SUCLA2):c.997G>T (p.Asp333Tyr)	rs972696428
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)	rs1768948534
NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr)	rs2037839447
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro)	rs1302747902
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser)	rs1571908056
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter)	rs1375875748

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