ClinVar Miner

List of variants in gene RUSF1, SLC5A2 studied for carbohydrate metabolism disease

Included ClinVar conditions (304):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003041.4(SLC5A2):c.1885A>G (p.Thr629Ala) rs61741237 0.01800
NM_003041.4(SLC5A2):c.*63G>A rs114517938 0.00666
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739 0.00531
NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp) rs149525864 0.00354
NM_003041.4(SLC5A2):c.*33C>G rs199886583 0.00220
NM_003041.4(SLC5A2):c.*48G>A rs184367787 0.00174
NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=) rs147697689 0.00063
NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=) rs143874850 0.00009
NM_003041.4(SLC5A2):c.*70C>G rs867270650 0.00008
NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser) rs201073991 0.00003
NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu) rs535031004 0.00003
NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=) rs372404252 0.00003
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala) rs753477563 0.00002
NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=) rs767926604 0.00001
NM_003041.4(SLC5A2):c.1792+12T>C rs886051963 0.00001
NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=) rs755803144 0.00001
NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=) rs557690622 0.00001
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr) rs775638719 0.00001
NM_003041.4(SLC5A2):c.*160C>T rs2082559242
NM_003041.4(SLC5A2):c.1690C>T (p.Arg564Trp)
NM_003041.4(SLC5A2):c.1792+2T>C
NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=) rs368649902
NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr) rs1188721313
NM_003041.4(SLC5A2):c.1889AGG[2] (p.Glu632del) rs771257793
NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys) rs760556743
NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe) rs141376808
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=) rs2082556858

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