ClinVar Miner

List of variants in gene SPTA1 reported as uncertain significance for Elliptocytosis

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.2572A>G (p.Lys858Glu) rs767236735 0.00002
NM_003126.4(SPTA1):c.-121dup rs368830436
NM_003126.4(SPTA1):c.-58CT[12] rs111674514
NM_003126.4(SPTA1):c.-58CT[16] rs111674514
NM_003126.4(SPTA1):c.1834-12_1834-10del rs886045390
NM_003126.4(SPTA1):c.1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-15_1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-16_1834-14del rs3039789
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.6120+11del rs750152009
NM_003126.4(SPTA1):c.6789-19_6789-17dup rs5778083
NM_003126.4(SPTA1):c.6789-6_6789-5dup rs766430823

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