ClinVar Miner

List of variants in gene POMT2 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NM_013382.5(POMT2):c.*1337C>T rs45561437
NM_013382.5(POMT2):c.*1756C>T rs148688355
NM_013382.5(POMT2):c.*2091G>T rs139493728
NM_013382.5(POMT2):c.-56G>A rs567281401
NM_013382.5(POMT2):c.1007-32G>A rs79509556
NM_013382.5(POMT2):c.1009C>T (p.Leu337=) rs777184206
NM_013382.5(POMT2):c.1017C>T (p.Tyr339=) rs1026361359
NM_013382.5(POMT2):c.1117-7C>T rs201921627
NM_013382.5(POMT2):c.1184-288T>C rs142996120
NM_013382.5(POMT2):c.1206A>C (p.Pro402=) rs142479943
NM_013382.5(POMT2):c.1221A>G (p.Arg407=) rs1594787171
NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) rs147268052
NM_013382.5(POMT2):c.1253+9A>G rs187294379
NM_013382.5(POMT2):c.1254-7C>T rs753987994
NM_013382.5(POMT2):c.1254-9A>G rs1594890973
NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) rs151078549
NM_013382.5(POMT2):c.1272C>T (p.His424=) rs1328987547
NM_013382.5(POMT2):c.1317C>T (p.Val439=) rs898725472
NM_013382.5(POMT2):c.1332+13C>T rs142916824
NM_013382.5(POMT2):c.1332+19T>G rs1057522317
NM_013382.5(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.5(POMT2):c.1397G>A (p.Arg466Gln) rs138266415
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) rs150491326
NM_013382.5(POMT2):c.1408C>T (p.Leu470=) rs886038599
NM_013382.5(POMT2):c.1484+17T>C rs769039137
NM_013382.5(POMT2):c.1485-4A>C rs794727127
NM_013382.5(POMT2):c.1512C>T (p.Cys504=) rs775728269
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
NM_013382.5(POMT2):c.1577-8del rs749856419
NM_013382.5(POMT2):c.1593G>A (p.Leu531=) rs147934334
NM_013382.5(POMT2):c.1599G>A (p.Val533=) rs768426838
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.1653+38G>A rs142649005
NM_013382.5(POMT2):c.1654-5T>C rs1594885955
NM_013382.5(POMT2):c.1654-8T>G rs780532724
NM_013382.5(POMT2):c.1659C>T (p.Asn553=) rs534663839
NM_013382.5(POMT2):c.1683T>C (p.Asn561=) rs146307965
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1726-15G>C rs1057524013
NM_013382.5(POMT2):c.1726-9A>T rs747493997
NM_013382.5(POMT2):c.1743G>A (p.Gly581=) rs755254043
NM_013382.5(POMT2):c.1785+20C>T rs371727483
NM_013382.5(POMT2):c.1786-18A>G rs193173216
NM_013382.5(POMT2):c.1786-39C>T rs438931
NM_013382.5(POMT2):c.1786-8C>T rs953851097
NM_013382.5(POMT2):c.1824C>T (p.Tyr608=) rs759220971
NM_013382.5(POMT2):c.1854C>T (p.Ala618=) rs1407950406
NM_013382.5(POMT2):c.1875G>T (p.Leu625=) rs1486213644
NM_013382.5(POMT2):c.1887T>G (p.Val629=) rs145942005
NM_013382.5(POMT2):c.1891+49C>T rs61990292
NM_013382.5(POMT2):c.1902G>A (p.Gln634=) rs1594883867
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) rs142299878
NM_013382.5(POMT2):c.1912C>A (p.Arg638=) rs119463989
NM_013382.5(POMT2):c.1932G>A (p.Leu644=) rs760608239
NM_013382.5(POMT2):c.1944A>G (p.Thr648=) rs148146976
NM_013382.5(POMT2):c.1959G>A (p.Pro653=) rs775222771
NM_013382.5(POMT2):c.196C>T (p.Leu66=) rs528060377
NM_013382.5(POMT2):c.1983C>T (p.Leu661=) rs1057523411
NM_013382.5(POMT2):c.2013C>T (p.Leu671=) rs751776398
NM_013382.5(POMT2):c.2033-20G>A rs1057524128
NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) rs200163818
NM_013382.5(POMT2):c.2112G>A (p.Ala704=) rs548359755
NM_013382.5(POMT2):c.2127G>A (p.Leu709=) rs138142899
NM_013382.5(POMT2):c.2147+7A>C rs1472805344
NM_013382.5(POMT2):c.2148-17C>G rs201328470
NM_013382.5(POMT2):c.2241A>T (p.Ser747=) rs751053480
NM_013382.5(POMT2):c.231C>T (p.Asp77=) rs1378921614
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.5(POMT2):c.248+20C>G rs1471456899
NM_013382.5(POMT2):c.248+6T>C rs777522318
NM_013382.5(POMT2):c.248+9T>C rs754261430
NM_013382.5(POMT2):c.339G>A (p.Leu113=) rs907279495
NM_013382.5(POMT2):c.36C>A (p.Ser12=) rs771074829
NM_013382.5(POMT2):c.438+288G>C rs12433986
NM_013382.5(POMT2):c.439-16T>C rs747572959
NM_013382.5(POMT2):c.439-45C>T rs146792467
NM_013382.5(POMT2):c.486T>C (p.Thr162=) rs766222032
NM_013382.5(POMT2):c.548-77C>G rs149929369
NM_013382.5(POMT2):c.567G>A (p.Leu189=) rs780313126
NM_013382.5(POMT2):c.636G>A (p.Lys212=) rs368906346
NM_013382.5(POMT2):c.648C>T (p.Cys216=) rs147871747
NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) rs144748043
NM_013382.5(POMT2):c.651C>T (p.Ala217=) rs147845081
NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) rs140785104
NM_013382.5(POMT2):c.69C>T (p.Pro23=) rs527728447
NM_013382.5(POMT2):c.795C>T (p.Phe265=) rs765276419
NM_013382.5(POMT2):c.816+8C>T rs187166139
NM_013382.5(POMT2):c.817-18G>A rs200104520
NM_013382.5(POMT2):c.846T>A (p.Arg282=) rs750579071
NM_013382.5(POMT2):c.84C>T (p.Ala28=) rs771031903
NM_013382.5(POMT2):c.871C>G (p.Leu291Val) rs764015186
NM_013382.5(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.5(POMT2):c.924-10C>T rs142122657
NM_013382.5(POMT2):c.936C>T (p.Asp312=) rs186690580
NM_013382.5(POMT2):c.9G>A (p.Pro3=) rs1594813347
NM_013382.7(POMT2):c.*1893G>A
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420
NM_013382.7(POMT2):c.1654-6A>G rs4540995

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