ClinVar Miner

List of variants studied for Imerslund-Grasbeck syndrome type 2 by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00005
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00001
NM_030943.4(AMN):c.35del (p.Gln12fs) rs769770182 0.00001
NM_030943.4(AMN):c.1006+11_1008del rs1566829097
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs) rs2139312594
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.206T>A (p.Met69Lys) rs375774640

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