ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001077365.2(POMT1):c.1272+84C>T rs77373739 0.05369
NM_001077365.2(POMT1):c.1083-224G>A rs77125240 0.04245
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001077365.2(POMT1):c.1272+262G>C rs113878457 0.02853
NM_001077365.2(POMT1):c.1175+98_1175+99del rs139273349 0.02629
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001077365.2(POMT1):c.123-348G>C rs149965169 0.01873
NM_001077365.2(POMT1):c.1175+174C>T rs144547065 0.01127
NM_001077365.2(POMT1):c.280+136dup rs149177205 0.01069
NM_001077365.2(POMT1):c.1272+254C>A rs536897848 0.01019
NM_001077365.2(POMT1):c.1825+237T>C rs113453750 0.01014
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001077365.2(POMT1):c.987-274C>T rs116547001 0.00612
NM_001077365.2(POMT1):c.122+248T>C rs76554548 0.00611
NM_001077365.2(POMT1):c.1082+45C>G rs181862470 0.00598
NM_001077365.2(POMT1):c.1365+77C>T rs115274090 0.00488
NM_001077365.2(POMT1):c.280+31G>A rs79446775 0.00484
NM_001077365.2(POMT1):c.281-160C>T rs74723827 0.00481
NM_001077365.2(POMT1):c.281-85C>T rs145670145 0.00479
NM_001077365.2(POMT1):c.700-30G>T rs111429426 0.00473
NM_001077365.2(POMT1):c.2004-64G>T rs139862946 0.00464
NM_001077365.2(POMT1):c.1272+193A>C rs571695392 0.00442
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001077365.2(POMT1):c.1825+25T>G rs75539982 0.00347
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001077365.2(POMT1):c.1273-201C>T rs116630918 0.00322
NM_001077365.2(POMT1):c.*635T>G rs112845474 0.00260
NM_001077365.2(POMT1):c.*25C>T rs115818625 0.00230
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001077365.2(POMT1):c.427+72A>T rs138335760 0.00203
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619 0.00181
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119 0.00006
NM_001077365.2(POMT1):c.1175+13G>A rs777087288 0.00004
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
NM_001077365.2(POMT1):c.987-39C>T rs530208525 0.00003
NM_001077365.2(POMT1):c.-37A>G rs1588303228 0.00001
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150 0.00001
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698 0.00001
NM_001077365.2(POMT1):c.1825+9C>T rs747140354 0.00001
NM_001077365.2(POMT1):c.816C>T (p.His272=) rs191404622 0.00001
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.1221C>T (p.Ser407=) rs1172989588
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.1272+196C>T rs113330289
NM_001077365.2(POMT1):c.1272+214_1272+262del rs1456577889
NM_001077365.2(POMT1):c.1272+249_1272+267del rs139935499
NM_001077365.2(POMT1):c.1272+261_1272+262insCTAACACA rs1564366833
NM_001077365.2(POMT1):c.1272+262_1272+263insGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTCCTC rs1564366867
NM_001077365.2(POMT1):c.1272+262_1272+297del rs1564366761
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.2052C>T (p.Tyr684=)
NM_001077365.2(POMT1):c.281-285del rs752320381
NM_001077365.2(POMT1):c.33G>T (p.Val11=)

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