List of variants in gene combination LOC130008987, ORAI1 reported as pathogenic for hereditary skeletal muscle disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)
NM_032790.4(ORAI1):c.290C>G (p.Ser97Cys)	rs1555322610
NM_032790.4(ORAI1):c.292G>A (p.Gly98Ser)	rs786204796

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