ClinVar Miner

List of variants reported as likely pathogenic for Citrin deficiency

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Total variants: 12
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HGVS dbSNP
NC_000007.13:g.(?_95906498)_(95906660_?)dup
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)
NM_014251.3(SLC25A13):c.1231-1G>A
NM_014251.3(SLC25A13):c.1453-1G>A
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp) rs80338724
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)
NM_014251.3(SLC25A13):c.1750+1G>C
NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys) rs80338727
NM_014251.3(SLC25A13):c.328+1G>T
NM_014251.3(SLC25A13):c.70-1G>A rs962082210
NM_014251.3(SLC25A13):c.848+1G>T rs761370420
NM_014251.3(SLC25A13):c.934-2A>T

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