ClinVar Miner

List of variants in gene SLC26A2 reported as benign for achondrogenesis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000112.3(SLC26A2):c.*1024T>G rs8073
NM_000112.3(SLC26A2):c.*3404C>T rs30833
NM_000112.3(SLC26A2):c.*4469del rs397883627
NM_000112.3(SLC26A2):c.*5338T>C rs17711997
NM_000112.3(SLC26A2):c.*5553G>A rs10476926
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.1721T>C (p.Ile574Thr) rs30832
NM_000112.3(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070
NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) rs76784312

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