List of variants in gene POMT2 reported as pathogenic by OMIM

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	rs200198778	0.00010
NM_013382.7(POMT2):c.1006+1G>A	rs533916138	0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)	rs267606971	0.00003
NM_013382.7(POMT2):c.248+5G>C	rs587777816	0.00002
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	rs267606970	0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)	rs190285831	0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	rs119463989	0.00001
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn)	rs267606972	0.00001
NM_013382.7(POMT2):c.1117G>T (p.Val373Phe)	rs267606965
NM_013382.7(POMT2):c.1261del (p.Arg421fs)	rs587777815
NM_013382.7(POMT2):c.1333-14G>A	rs918556979
NM_013382.7(POMT2):c.1445G>T (p.Gly482Val)	rs267606968
NM_013382.7(POMT2):c.1941G>A (p.Trp647Ter)	rs267606963
NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu)	rs267606969
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg)	rs267606964
NM_013382.7(POMT2):c.2243G>C (p.Trp748Ser)	rs267606967
NM_013382.7(POMT2):c.737G>A (p.Gly246Asp)	rs267606966

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