List of variants in gene POMT1 reported as pathogenic by Baylor Genetics

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	rs200056620	0.00008
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)	rs794727208	0.00004
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)	rs119462983	0.00002
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)	rs756973046	0.00001
NM_001077365.2(POMT1):c.1175+1G>A	rs1051679985	0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)	rs1564364615	0.00001
NM_001077365.2(POMT1):c.1255C>T (p.Gln419Ter)	rs745509085	0.00001
NM_001077365.2(POMT1):c.1391G>C (p.Trp464Ser)	rs746849558	0.00001
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter)	rs761848742	0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	rs119462987	0.00001
NM_001077365.2(POMT1):c.280+1G>T	rs746823238	0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)	rs119462981	0.00001
NM_001077365.2(POMT1):c.986+1G>A	rs961071228	0.00001
NM_001077365.2(POMT1):c.1272+1G>A	rs2131751359
NM_001077365.2(POMT1):c.1477_1486del (p.Tyr493fs)
NM_001077365.2(POMT1):c.1724_1725del (p.Ile575fs)
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)	rs138902646
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	rs398124245
NM_001077365.2(POMT1):c.2142del (p.Arg713_Trp714insTer)
NM_001077365.2(POMT1):c.291del (p.Ser97fs)
NM_001077365.2(POMT1):c.485del (p.Phe162fs)	rs1250351189
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)	rs398124247
NM_007171.4(POMT1):c.429_430del

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