ClinVar Miner

List of variants in gene POMT1 reported by Mendelics

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)	rs150367385	0.00114
NM_001077365.2(POMT1):c.986+1G>A	rs961071228	0.00001
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)	rs776988725

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