List of variants in gene BOLA3 reported as likely pathogenic for Multiple mitochondrial dysfunctions syndrome 2

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)	rs550855238	0.00002
NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr)	rs772014561	0.00001
NM_212552.3(BOLA3):c.220_222del (p.Glu74del)	rs1209052568
NM_212552.3(BOLA3):c.259-1G>C

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