List of variants in gene POMT2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln)	rs151078549	0.00333
NM_013382.7(POMT2):c.1881G>A (p.Ala627=)	rs146588608	0.00158
NM_013382.7(POMT2):c.1683T>C (p.Asn561=)	rs146307965	0.00148
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)	rs151051452	0.00062
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)	rs150491326	0.00043
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)	rs375217032	0.00026
NM_013382.7(POMT2):c.36C>A (p.Ser12=)	rs771074829	0.00014
NM_013382.7(POMT2):c.1743G>A (p.Gly581=)	rs755254043	0.00003
NM_013382.7(POMT2):c.651C>T (p.Ala217=)	rs147845081	0.00001
NM_013382.7(POMT2):c.1891+220C>T
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)	rs151103906
NM_013382.7(POMT2):c.579C>T (p.Ile193=)
NM_013382.7(POMT2):c.645T>G (p.Ser215=)
NM_013382.7(POMT2):c.762G>A (p.Gly254=)

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