List of variants in gene NDUFS4 reported as pathogenic for hereditary peripheral neuropathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002495.4(NDUFS4):c.99-1G>A	rs376281345	0.00001
NM_002495.4(NDUFS4):c.178-2A>G	rs1554059248
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)	rs121908985
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	rs104893898
NM_002495.4(NDUFS4):c.350+1G>A	rs1260453815
NM_002495.4(NDUFS4):c.350+1G>T
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)	rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)	rs1445075330
NM_002495.4(NDUFS4):c.470_471del (p.Lys156_Ser157insTer)	rs1554062427

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