ClinVar Miner

List of variants in gene POMT1 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001077365.2(POMT1):c.-6T>G rs62620173 0.00840
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_001077365.2(POMT1):c.*206A>G rs111470256 0.00610
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540

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