List of variants studied for fatal multiple mitochondrial dysfunctions syndrome by Baylor Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_212552.3(BOLA3):c.258+9A>C	rs201380456	0.00133
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val)	rs77305684	0.00027
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)	rs374514431	0.00012
NM_194279.4(ISCA2):c.361G>T (p.Val121Leu)	rs201908228	0.00009
NM_212552.3(BOLA3):c.317A>G (p.Lys106Arg)	rs376876176	0.00004
NM_004279.3(PMPCB):c.-3G>T	rs771831705	0.00002
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	rs1281276965	0.00001
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu)	rs1191467500	0.00001
NM_001010867.4(IBA57):c.827G>A (p.Arg276His)	rs1245306816	0.00001
NM_004279.3(PMPCB):c.1087T>C (p.Trp363Arg)	rs752266462	0.00001
NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg)	rs777654434	0.00001
NM_212552.3(BOLA3):c.76T>C (p.Phe26Leu)	rs965127002	0.00001
NM_004279.3(PMPCB):c.150A>C (p.Gln50His)	rs762743960
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)	rs730882246
NM_212552.3(BOLA3):c.131T>G (p.Phe44Cys)	rs1692522564

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