ClinVar Miner

List of variants in gene SLC26A2 reported as likely benign for achondrogenesis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000112.3(SLC26A2):c.*1631C>T rs7717795
NM_000112.3(SLC26A2):c.*1892dupT rs148778566
NM_000112.3(SLC26A2):c.*2226C>T rs7722454
NM_000112.3(SLC26A2):c.*2612C>T rs28451300
NM_000112.3(SLC26A2):c.*3466C>G rs6888879
NM_000112.3(SLC26A2):c.*3670G>A rs76262875
NM_000112.3(SLC26A2):c.*394T>A rs140641532
NM_000112.3(SLC26A2):c.*4460G>T rs111742763
NM_000112.3(SLC26A2):c.*4870dupT rs368872246
NM_000112.3(SLC26A2):c.*4982A>G rs74589369
NM_000112.3(SLC26A2):c.*590C>T rs1046710
NM_000112.3(SLC26A2):c.*600G>T rs143723255
NM_000112.3(SLC26A2):c.*938T>C rs150188068
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) rs61732052
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114

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