ClinVar Miner

List of variants in gene POMT1 studied for Walker-Warburg congenital muscular dystrophy

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.1255C>T (p.Gln419Ter)	rs745509085	0.00001
NM_001077365.2(POMT1):c.184del (p.Asp62fs)
NM_001077365.2(POMT1):c.485del (p.Phe162fs)	rs1250351189

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