ClinVar Miner

List of variants in gene SLC25A13 reported as pathogenic by Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00001
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met) rs768922690 0.00001
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725 0.00001
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) rs121908532 0.00001
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) rs1798490375
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) rs540149539
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA
NM_014251.3(SLC25A13):c.70-63_132del
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014251.3(SLC25A13):c.[1956C>A;1962del]

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