List of variants in gene POMT1 reported as likely pathogenic by GeneDx

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	rs398124244	0.00002
NM_001077365.2(POMT1):c.1698+1G>A	rs763586263	0.00002
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)	rs1554778005
NM_001077365.2(POMT1):c.1925A>G (p.Tyr642Cys)	rs2131922603
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)	rs138902646
NM_001077365.2(POMT1):c.2144_2147del (p.Lys715fs)	rs750453909
NM_001077365.2(POMT1):c.428-2A>G	rs1554773448
NM_001077365.2(POMT1):c.767T>A (p.Leu256Ter)	rs2131653908

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