ClinVar Miner

List of variants reported as pathogenic for Neonatal intrahepatic cholestasis due to citrin deficiency by Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
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.852_855del (p.Met285fs) rs80338720

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