List of variants in gene POMT2 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)	rs587780423	0.00002
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	rs267606970	0.00001
NM_013382.7(POMT2):c.1712dup (p.Ile572fs)	rs780725241
NM_013382.7(POMT2):c.1764_1765del (p.Val589fs)	rs1555351889
NM_013382.7(POMT2):c.2206del (p.Gln736fs)	rs774412117
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe)	rs398124265

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