ClinVar Miner

List of variants in gene POMT1 reported by Athena Diagnostics

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.11757
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494 0.11727
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065 0.11279
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04317
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 0.01554
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.00967
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00916
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00735
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00301
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619 0.00181
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00173
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 0.00076
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353 0.00013
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514 0.00011
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016 0.00007
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503 0.00004
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948 0.00002
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093 0.00002
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071 0.00002
NM_001077365.2(POMT1):c.699+14T>A rs370038491 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr) rs1334264954 0.00001
NM_001077365.2(POMT1):c.1315A>T (p.Ile439Phe) rs1176084945 0.00001
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623 0.00001
NM_001077365.2(POMT1):c.1601T>C (p.Leu534Pro) rs1489617043 0.00001
NM_001077365.2(POMT1):c.1616C>T (p.Ser539Leu) rs754907726 0.00001
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587 0.00001
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs) rs2539364366
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.195GCC[1] (p.Pro67del) rs755282220
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) rs113633543
NM_001077365.2(POMT1):c.539+3A>C rs780457748
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.699+67del rs1588377489
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493

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