ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899

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