ClinVar Miner

List of variants in gene SLC52A1 reported as uncertain significance for ariboflavinosis

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NM_001104577.1(SLC52A1):c.1062del (p.Tyr355fs)
NM_017986.4(SLC52A1):c.1240G>A (p.Ala414Thr)
NM_017986.4(SLC52A1):c.1321G>C (p.Asp441His)
NM_017986.4(SLC52A1):c.505C>T (p.Arg169Cys)
NM_017986.4(SLC52A1):c.628G>A (p.Ala210Thr) rs139373407
NM_017986.4(SLC52A1):c.874G>A (p.Val292Met)
NM_017986.4(SLC52A1):c.928C>T (p.Arg310Cys) rs778417188
NM_017986.4(SLC52A1):c.950T>C (p.Val317Ala)

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