ClinVar Miner

List of variants studied for Neonatal intrahepatic cholestasis due to citrin deficiency by 3billion

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00005
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720

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