ClinVar Miner

List of variants in gene SLC52A2 reported as benign for brown-Vialetto-van Laere syndrome 2

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001363118.2(SLC52A2):c.-110-5T>C rs3817681 0.35735
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_001363118.2(SLC52A2):c.1001+6C>T rs139398461 0.00306
NM_001363118.2(SLC52A2):c.555C>T (p.Leu185=) rs74370046 0.00303
NM_001363118.2(SLC52A2):c.643C>T (p.Leu215=) rs147954962 0.00148
NM_001363118.2(SLC52A2):c.1066C>T (p.Leu356=) rs138107380 0.00078
NM_001363118.2(SLC52A2):c.696C>T (p.Gly232=) rs577719492 0.00043
NM_001363118.2(SLC52A2):c.1300C>T (p.His434Tyr) rs566858747 0.00031
NM_001363118.2(SLC52A2):c.359T>C (p.Val120Ala) rs74445699 0.00018
NM_001363118.2(SLC52A2):c.309C>T (p.Ala103=) rs146256291 0.00012
NM_001363118.2(SLC52A2):c.1320A>G (p.Ala440=) rs189845609 0.00011
NM_001363118.2(SLC52A2):c.1065G>T (p.Ala355=) rs200618841
NM_001363118.2(SLC52A2):c.1245C>T (p.Gly415=) rs545630597
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001363118.2(SLC52A2):c.888C>A (p.Ala296=) rs375399467

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