ClinVar Miner

Variants in gene SPTA1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302

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