ClinVar Miner

List of variants in gene ORAI1 reported as benign for congenital myopathy

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032790.4(ORAI1):c.798T>C (p.Thr266=) rs3825175 0.50916
NM_032790.4(ORAI1):c.546C>T (p.Ile182=) rs3741595 0.14694
NM_032790.4(ORAI1):c.786T>C (p.Val262=) rs3825174 0.02969
NM_032790.4(ORAI1):c.652A>G (p.Ser218Gly) rs3741596 0.02966
NM_032790.4(ORAI1):c.705T>C (p.Ala235=) rs3741597 0.02920
NM_032790.4(ORAI1):c.576G>A (p.Val192=) rs373332284 0.00130
NM_032790.3(ORAI1):c.309-5C>T rs111498037 0.00083
NM_032790.4(ORAI1):c.885G>A (p.Thr295=) rs187222480 0.00006

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