ClinVar Miner

List of variants in gene POMT1 reported as benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.856-49T>G rs4740163 0.97653
NM_001077365.2(POMT1):c.986+49G>A rs10901066 0.88278
NM_001077365.2(POMT1):c.428-21T>C rs11243404 0.88267
NM_001077365.2(POMT1):c.700-48A>G rs2018621 0.88264
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_001077365.2(POMT1):c.1698+48C>G rs2277152 0.84050
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
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.1825+19del rs11345097 0.00998
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.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.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045

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