List of variants reported as pathogenic for multiple mitochondrial dysfunctions syndrome 7 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)	rs769222264	0.00002
NM_004483.5(GCSH):c.1A>G (p.Met1Val)	rs886039730	0.00001
NG_016427.1:g.(5246_10695)_(10776_13711)del
NM_004483.5(GCSH):c.170A>G (p.His57Arg)
NM_004483.5(GCSH):c.293-2_293-1insT
NM_004483.5(GCSH):c.293-60_*72dup
NM_004483.5(GCSH):c.344C>T (p.Pro115Leu)

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