ClinVar Miner

List of variants in gene AMN reported as pathogenic for anemia

Included ClinVar conditions (282):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_030943.4(AMN):c.1161dup (p.Arg388fs)
NM_030943.4(AMN):c.1173G>A (p.Trp391Ter)
NM_030943.4(AMN):c.1255dup (p.Leu419fs)
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.4(AMN):c.170C>G (p.Ser57Ter)
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.320_321dup (p.Asp108fs) rs1555381324
NM_030943.4(AMN):c.34C>T (p.Gln12Ter)
NM_030943.4(AMN):c.35del (p.Gln12fs) rs769770182
NM_030943.4(AMN):c.411C>A (p.Cys137Ter)
NM_030943.4(AMN):c.493dup (p.Ser165fs)
NM_030943.4(AMN):c.534_535dup (p.Leu179fs)
NM_030943.4(AMN):c.545del (p.Phe182fs)
NM_030943.4(AMN):c.587del (p.Gly196fs)
NM_030943.4(AMN):c.58del (p.Val20fs)
NM_030943.4(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.4(AMN):c.669C>A (p.Cys223Ter)
NM_030943.4(AMN):c.682C>T (p.Gln228Ter)
NM_030943.4(AMN):c.683_705dup (p.Gln236fs)
NM_030943.4(AMN):c.73del (p.Val25fs)
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.4(AMN):c.78del (p.Asn27fs)
NM_030943.4(AMN):c.791dup (p.Phe265fs) rs2139311251
NM_030943.4(AMN):c.862C>T (p.Gln288Ter)
NM_030943.4(AMN):c.890C>A (p.Ser297Ter)

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