ClinVar Miner

List of variants in gene SPTAN1 reported by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)	rs147132904	0.00175
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)	rs794727356	0.00001

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