ClinVar Miner

List of variants in gene NDUFS1 reported by Mendelics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu) rs751150787 0.00003
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln) rs776114731 0.00001
NM_005006.7(NDUFS1):c.1393-7_1393-3del rs1559047521
NM_005006.7(NDUFS1):c.154-126TAGA[8] rs3217140
NM_005006.7(NDUFS1):c.154-126TAGA[9] rs3217140
NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg) rs747249702
NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp) rs1575984450

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