ClinVar Miner

List of variants in gene SLC25A46 reported as likely pathogenic for Neuropathy, hereditary motor and sensory, type 6B

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu) rs1580870705 0.00001
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NM_138773.4(SLC25A46):c.327-2A>C
NM_138773.4(SLC25A46):c.385-2A>T rs1799815535
NM_138773.4(SLC25A46):c.462+2T>C
NM_138773.4(SLC25A46):c.620+1G>A
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143

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