ClinVar Miner

List of variants in gene POMT1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP
NM_001077365.2(POMT1):c.-20T>C rs201733950
NM_001077365.2(POMT1):c.-30-16C>T rs771949915
NM_001077365.2(POMT1):c.-31+16C>G rs535602204
NM_001077365.2(POMT1):c.-31+228dup rs527286034
NM_001077365.2(POMT1):c.-37A>G rs1588303228
NM_001077365.2(POMT1):c.1082+16G>A rs59515295
NM_001077365.2(POMT1):c.1083-180G>A rs7865761
NM_001077365.2(POMT1):c.1083-224G>A rs77125240
NM_001077365.2(POMT1):c.1083-284dup rs75772133
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.111G>C (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177
NM_001077365.2(POMT1):c.1175+13G>A rs777087288
NM_001077365.2(POMT1):c.1175+16G>A rs371908251
NM_001077365.2(POMT1):c.1175+2dup rs886041907
NM_001077365.2(POMT1):c.1176-16G>A rs199684856
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) rs1554778005
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.1272+196C>T rs113330289
NM_001077365.2(POMT1):c.1272+249_1272+303del rs1564366378
NM_001077365.2(POMT1):c.1272+262G>C rs113878457
NM_001077365.2(POMT1):c.1272+84C>T rs77373739
NM_001077365.2(POMT1):c.1273-70C>T rs113628769
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419
NM_001077365.2(POMT1):c.1302C>T (p.Asp434=) rs568246978
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001077365.2(POMT1):c.1326G>A (p.Glu442=) rs764970702
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387
NM_001077365.2(POMT1):c.1365+15C>T rs58896330
NM_001077365.2(POMT1):c.1366-12C>T rs757666938
NM_001077365.2(POMT1):c.1366-61A>G rs1547768
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=) rs746412899
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter) rs727502854
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1486+14G>A rs142995404
NM_001077365.2(POMT1):c.1486+9G>A rs547775333
NM_001077365.2(POMT1):c.1487-130A>G rs2010635
NM_001077365.2(POMT1):c.1487-164G>A rs749591
NM_001077365.2(POMT1):c.1487-166G>A rs749590
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1585-14C>T rs78529026
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.1698+107C>A rs2277153
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.1698+233C>T rs62580581
NM_001077365.2(POMT1):c.1698+48C>G rs2277152
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1699-19A>G rs761855332
NM_001077365.2(POMT1):c.1699-339A>G rs4740258
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter) rs761848742
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1825+198C>G rs7849433
NM_001077365.2(POMT1):c.1825+19del rs11345097
NM_001077365.2(POMT1):c.1825+237T>C rs113453750
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427
NM_001077365.2(POMT1):c.1826-248T>C rs7870715
NM_001077365.2(POMT1):c.1826-268G>A rs61584357
NM_001077365.2(POMT1):c.1826-40G>A rs187443595
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.2003+10C>T rs1474253398
NM_001077365.2(POMT1):c.2003+9G>A rs368975092
NM_001077365.2(POMT1):c.2004-20C>T rs372767898
NM_001077365.2(POMT1):c.2004-70C>T rs10122068
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.2113_2114dup (p.Pro706fs) rs587777819
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709
NM_001077365.2(POMT1):c.2144_2147del (p.Lys715fs) rs750453909
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476
NM_001077365.2(POMT1):c.280+271G>A rs10448341
NM_001077365.2(POMT1):c.281-199G>A rs6597500
NM_001077365.2(POMT1):c.281-5T>C rs367743923
NM_001077365.2(POMT1):c.281-82C>T rs6597501
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285
NM_001077365.2(POMT1):c.428-21T>C rs11243404
NM_001077365.2(POMT1):c.428-232A>G rs10793880
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.428-340C>T rs10901063
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.501G>A (p.Val167=) rs757051194
NM_001077365.2(POMT1):c.539+104A>G rs28447664
NM_001077365.2(POMT1):c.539+19C>T rs376642449
NM_001077365.2(POMT1):c.539+3A>G rs780457748
NM_001077365.2(POMT1):c.539+91C>T rs11999204
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077365.2(POMT1):c.606-12A>G rs1057523851
NM_001077365.2(POMT1):c.606-9T>C rs760178838
NM_001077365.2(POMT1):c.630G>A (p.Thr210=) rs553160213
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=) rs747129906
NM_001077365.2(POMT1):c.699+33G>A rs750646014
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.699+72T>C rs200780140
NM_001077365.2(POMT1):c.699+85C>G rs369000699
NM_001077365.2(POMT1):c.699+85C>T rs369000699
NM_001077365.2(POMT1):c.700-48A>G rs2018621
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380
NM_001077365.2(POMT1):c.855+175G>A rs3780259
NM_001077365.2(POMT1):c.855+225A>G rs117287406
NM_001077365.2(POMT1):c.855+6T>C rs200692465
NM_001077365.2(POMT1):c.856-299T>A rs10901064
NM_001077365.2(POMT1):c.856-49T>G rs4740163
NM_001077365.2(POMT1):c.856-65G>A rs34159422
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289
NM_001077365.2(POMT1):c.919C>T (p.Leu307=) rs983634068
NM_001077365.2(POMT1):c.986+184G>A rs10793881
NM_001077365.2(POMT1):c.986+246G>A rs3739492
NM_001077365.2(POMT1):c.986+279T>C rs3739493
NM_001077365.2(POMT1):c.986+49G>A rs10901066
NM_001077365.2(POMT1):c.986+5G>A rs370096853
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001077365.2(POMT1):c.987-113C>G rs10901068
NM_001077365.2(POMT1):c.987-173C>T rs10901067

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