ClinVar Miner

List of variants studied for Multiple mitochondrial dysfunctions syndrome 2 by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter) rs143492730 0.00004
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn) rs550855238 0.00002
NM_212552.3(BOLA3):c.308_309del (p.Ser103fs)
NM_212552.3(BOLA3):c.82A>C (p.Thr28Pro)

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