ClinVar Miner

List of variants reported as benign for Combined oxidative phosphorylation defect type 7; Spastic paraplegia by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_152269.5(MTRFR):c.273C>T (p.Ile91=) rs2280424 0.04534
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634 0.01784
NM_152269.5(MTRFR):c.468A>G (p.Lys156=) rs147972301 0.00088
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
NM_152269.5(MTRFR):c.309G>A (p.Gln103=) rs573747271 0.00003

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