ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial complex III deficiency nuclear type 5

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His) rs778618710 0.00014
NM_003366.4(UQCRC2):c.117+1G>T
NM_003366.4(UQCRC2):c.1189G>A (p.Gly397Arg) rs1384782297
NM_003366.4(UQCRC2):c.1228T>C (p.Ser410Pro) rs1164035037
NM_003366.4(UQCRC2):c.1254dup (p.Val419fs)
NM_003366.4(UQCRC2):c.206G>A (p.Ser69Asn)
NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro) rs2141926322
NM_003366.4(UQCRC2):c.437T>C (p.Phe146Ser)
NM_003366.4(UQCRC2):c.661A>T (p.Ile221Phe) rs1273091315

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