List of variants in gene POMT1 reported as likely pathogenic for not provided

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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: 22

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HGVS	dbSNP	gnomAD frequency
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)	rs1032439203	0.00006
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	rs398124244	0.00002
NM_001077365.2(POMT1):c.1698+1G>A	rs763586263	0.00002
NM_001077365.2(POMT1):c.1176-2A>G	rs746523421	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.692T>A (p.Leu231Ter)	rs759156674	0.00001
NM_001077365.2(POMT1):c.1058G>A (p.Trp353Ter)	rs2131683250
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter)	rs1554778005
NM_001077365.2(POMT1):c.1214_1215delinsTC (p.Glu405Val)	rs398124243
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer)	rs1564381395
NM_001077365.2(POMT1):c.1552del (p.Leu518fs)	rs1453641005
NM_001077365.2(POMT1):c.1925A>G (p.Tyr642Cys)	rs2131922603
NM_001077365.2(POMT1):c.2004-1_2005del	rs1057520142
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)	rs138902646
NM_001077365.2(POMT1):c.2144_2147del (p.Lys715fs)	rs750453909
NM_001077365.2(POMT1):c.428-2A>G	rs1554773448
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs)	rs1554773974
NM_001077365.2(POMT1):c.699+67del	rs1588377489
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro)	rs772980661
NM_001077365.2(POMT1):c.767T>A (p.Leu256Ter)	rs2131653908

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