ClinVar Miner

List of variants reported as benign for Multiple mitochondrial dysfunctions syndrome 1 by Invitae

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_001002755.4(NFU1):c.62+9C>T rs114846829 0.01785
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser) rs76646410 0.01339
NM_001002755.4(NFU1):c.411T>C (p.Ile137=) rs12474866 0.00978
NM_001002755.4(NFU1):c.166+8T>A rs199927640 0.00078
NM_001002755.4(NFU1):c.420A>T (p.Thr140=) rs768949114 0.00001
NM_001002755.4(NFU1):c.302+15dup
NM_001002755.4(NFU1):c.303-13dup rs372898848

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