List of variants reported as pathogenic for Imerslund-Grasbeck syndrome type 2

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_030943.4(AMN):c.208-2A>G	rs386834170	0.00004
NM_030943.4(AMN):c.122C>T (p.Thr41Ile)	rs119478058	0.00002
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
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs)	rs2139308896
NM_030943.4(AMN):c.35del (p.Gln12fs)	rs769770182
NM_030943.4(AMN):c.493dup (p.Ser165fs)

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