ClinVar Miner

List of variants in gene OR10Z1, SPTA1 studied for Elliptocytosis 2

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.*295C>T rs12601 0.52219
NM_003126.4(SPTA1):c.*167A>G rs3768535 0.25502
NM_003126.4(SPTA1):c.*276T>C rs12128275 0.10237
NM_003126.4(SPTA1):c.*68C>G rs186892978 0.00406
NM_003126.4(SPTA1):c.*387T>C rs549664412 0.00146
NM_003126.4(SPTA1):c.*341T>G rs867313542 0.00008
NM_003126.4(SPTA1):c.*294A>G rs886045378 0.00006
NM_003126.4(SPTA1):c.*39G>A rs202171095 0.00006
NM_003126.4(SPTA1):c.*319C>T rs561434223 0.00004
NM_003126.4(SPTA1):c.7198G>T (p.Gly2400Cys) rs774112593 0.00003
NM_003126.4(SPTA1):c.*379G>A rs976671141 0.00001
NM_003126.4(SPTA1):c.7228G>A (p.Val2410Ile) rs750904139 0.00001
NM_003126.4(SPTA1):c.7237A>T (p.Thr2413Ser) rs376198878 0.00001
NM_003126.4(SPTA1):c.*133C>T rs868674912
NM_003126.4(SPTA1):c.*134T>G rs866529035
NM_003126.4(SPTA1):c.*296G>T rs886045377
NM_003126.4(SPTA1):c.*323T>C rs867404163
NM_003126.4(SPTA1):c.*420T>A rs1197068796
NM_003126.4(SPTA1):c.*509G>T rs1649201828

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