ClinVar Miner

List of variants in gene POMT1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
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.1272+262G>C rs113878457 0.02853
NM_001077365.2(POMT1):c.1175+98_1175+99del rs139273349 0.02629
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.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.1585-14C>T rs78529026 0.00332
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.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001077365.2(POMT1):c.*25C>T rs115818625 0.00230
NM_001077365.2(POMT1):c.-20T>C rs201733950 0.00222
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.1486+14G>A rs142995404 0.00118
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.2004-20C>T rs372767898 0.00061
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_001077365.2(POMT1):c.1175+16G>A rs371908251 0.00030
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.539+19C>T rs376642449 0.00023
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210 0.00012
NM_001077365.2(POMT1):c.281-5T>C rs367743923 0.00011
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.1486+9G>A rs547775333 0.00006
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.2003+9G>A rs368975092 0.00004
NM_001077365.2(POMT1):c.699+85C>G rs369000699 0.00004
NM_001077365.2(POMT1):c.-30-16C>T rs771949915 0.00003
NM_001077365.2(POMT1):c.111G>C (p.Pro37=) rs761641734 0.00003
NM_001077365.2(POMT1):c.1302C>T (p.Asp434=) rs568246978 0.00003
NM_001077365.2(POMT1):c.1366-12C>T rs757666938 0.00003
NM_001077365.2(POMT1):c.630G>A (p.Thr210=) rs553160213 0.00003
NM_001077365.2(POMT1):c.699+72T>C rs200780140 0.00003
NM_001077365.2(POMT1):c.987-39C>T rs530208525 0.00003
NM_001077365.2(POMT1):c.1699-19A>G rs761855332 0.00002
NM_001077365.2(POMT1):c.-31+16C>G rs535602204 0.00001
NM_001077365.2(POMT1):c.-37A>G rs1588303228 0.00001
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=) rs746412899 0.00001
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150 0.00001
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427 0.00001
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285 0.00001
NM_001077365.2(POMT1):c.501G>A (p.Val167=) rs757051194 0.00001
NM_001077365.2(POMT1):c.539+3A>G rs780457748 0.00001
NM_001077365.2(POMT1):c.606-9T>C rs760178838 0.00001
NM_001077365.2(POMT1):c.699+33G>A rs750646014 0.00001
NM_001077365.2(POMT1):c.919C>T (p.Leu307=) rs983634068 0.00001
NM_001077365.2(POMT1):c.-31+228dup rs527286034
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.1176-16G>A rs199684856
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1221C>T (p.Ser407=) rs1172989588
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.1326G>A (p.Glu442=) rs764970702
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.2003+10C>T rs1474253398
NM_001077365.2(POMT1):c.281-285del rs752320381
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077365.2(POMT1):c.606-12A>G rs1057523851
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=) rs747129906
NM_001077365.2(POMT1):c.699+85C>T rs369000699

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