ClinVar Miner

List of variants in gene AMN studied for Imerslund-Gräsbeck syndrome

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Gene type:
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Total variants: 50
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HGVS dbSNP
NM_030943.3(AMN):c.1006+16_1006+30del rs386834160
NM_030943.3(AMN):c.1006+34_1006+48del rs386834161
NM_030943.3(AMN):c.1006+36_1006+50del rs386834162
NM_030943.3(AMN):c.1014_1021del (p.Leu339fs) rs386834163
NM_030943.3(AMN):c.1170-37C>G rs148815688
NM_030943.3(AMN):c.1170-6C>T rs386834164
NM_030943.3(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.3(AMN):c.1257+10C>T rs386834166
NM_030943.3(AMN):c.1312_1313CA[1] (p.His438fs) rs386834167
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.3(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.3(AMN):c.165G>A (p.Met55Ile) rs61731158
NM_030943.3(AMN):c.208-1G>C rs386834169
NM_030943.3(AMN):c.295+1del rs386834171
NM_030943.3(AMN):c.296-9C>T rs373204347
NM_030943.3(AMN):c.363G>A (p.Gly121=) rs141455061
NM_030943.3(AMN):c.400C>G (p.Arg134Gly) rs758317090
NM_030943.3(AMN):c.43+1G>T rs386834172
NM_030943.3(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.3(AMN):c.514-34G>A rs144077391
NM_030943.3(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.3(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.3(AMN):c.735C>T (p.Pro245=) rs546245909
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.3(AMN):c.760+1G>A rs1555381485
NM_030943.3(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.3(AMN):c.829A>G (p.Thr277Ala) rs146499374
NM_030943.3(AMN):c.844-1G>C rs969552874
NM_030943.3(AMN):c.974_977dup (p.Ala327fs) rs386834179
NM_030943.3(AMN):c.989C>A (p.Ala330Glu) rs542237999
NM_030943.4(AMN):c.1036A>T (p.Met346Leu)
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp)
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064
NM_030943.4(AMN):c.123C>G (p.Thr41=) rs758005290
NM_030943.4(AMN):c.1348_1353GAGGCC[3] (p.450_451EA[3]) rs763564473
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)
NM_030943.4(AMN):c.208-10T>C rs115851517
NM_030943.4(AMN):c.208-2A>G rs386834170
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567
NM_030943.4(AMN):c.324C>T (p.Asp108=) rs7140429
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450
NM_030943.4(AMN):c.57G>T (p.Ala19=) rs145328398
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721
NM_030943.4(AMN):c.791dup (p.Phe265fs)
NM_030943.4(AMN):c.805C>T (p.Arg269Trp)
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960
NM_030943.4(AMN):c.843+11del rs1467152225
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857

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