List of variants in gene POMT1 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)	rs119462983	0.00002
NM_001077365.2(POMT1):c.1175+1G>A	rs1051679985	0.00001
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met)	rs397515400	0.00001
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)	rs119462985	0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	rs119462987	0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	rs119462982	0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)	rs119462981	0.00001
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del)	rs587777818
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys)	rs119462984
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)	rs119462986
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs)	rs587777817
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	rs398124245
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)	rs587777819
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)	rs28941782
NM_001077365.2(POMT1):c.418_420del (p.Met140del)	rs587777820
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp)	rs397514501

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