ClinVar Miner

List of variants in gene AMN reported as uncertain significance for Imerslund-Grasbeck syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly) rs370794142 0.00053
NM_030943.4(AMN):c.928G>A (p.Val310Met) rs201788173 0.00043
NM_030943.4(AMN):c.651+3G>T rs751723677 0.00034
NM_030943.4(AMN):c.1123G>C (p.Val375Leu) rs759831593 0.00009
NM_030943.4(AMN):c.197T>C (p.Val66Ala) rs371713937 0.00007
NM_030943.4(AMN):c.805C>T (p.Arg269Trp) rs200712130 0.00006
NM_030943.4(AMN):c.400C>G (p.Arg134Gly) rs758317090 0.00005
NM_030943.4(AMN):c.1141C>T (p.Pro381Ser) rs1345352857 0.00004
NM_030943.4(AMN):c.500C>T (p.Ser167Leu) rs774698023 0.00004
NM_030943.4(AMN):c.448T>C (p.Phe150Leu) rs1039668619 0.00003
NM_030943.4(AMN):c.811C>T (p.Arg271Trp) rs765147150 0.00003
NM_030943.4(AMN):c.110G>A (p.Ser37Asn) rs200648108 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_030943.4(AMN):c.532G>A (p.Asp178Asn) rs575761625 0.00002
NM_030943.4(AMN):c.108G>C (p.Trp36Cys) rs199835580 0.00001
NM_030943.4(AMN):c.296-3C>T rs764763091 0.00001
NM_030943.4(AMN):c.356G>T (p.Arg119Leu) rs533436439 0.00001
NM_030943.4(AMN):c.790G>A (p.Ala264Thr) rs1450455717 0.00001
NM_030943.4(AMN):c.1145T>C (p.Leu382Pro)
NM_030943.4(AMN):c.1148T>C (p.Leu383Pro)
NM_030943.4(AMN):c.1169+17_1169+36del
NM_030943.4(AMN):c.1192G>T (p.Ala398Ser)
NM_030943.4(AMN):c.1199C>T (p.Ala400Val)
NM_030943.4(AMN):c.1219C>T (p.Arg407Cys)
NM_030943.4(AMN):c.1257G>A (p.Leu419=) rs2139313588
NM_030943.4(AMN):c.1270C>G (p.Arg424Gly)
NM_030943.4(AMN):c.1288A>C (p.Lys430Gln)
NM_030943.4(AMN):c.1308_1323dup (p.Val442fs) rs2139314176
NM_030943.4(AMN):c.130G>A (p.Ala44Thr)
NM_030943.4(AMN):c.1310G>A (p.Ser437Asn)
NM_030943.4(AMN):c.1330C>T (p.Pro444Ser) rs1354241478
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.140C>T (p.Ala47Val)
NM_030943.4(AMN):c.149T>C (p.Phe50Ser) rs772475317
NM_030943.4(AMN):c.163-3C>T
NM_030943.4(AMN):c.206T>C (p.Met69Thr)
NM_030943.4(AMN):c.294G>A (p.Ala98=)
NM_030943.4(AMN):c.296-9C>G
NM_030943.4(AMN):c.316G>A (p.Asp106Asn)
NM_030943.4(AMN):c.365A>G (p.Asp122Gly)
NM_030943.4(AMN):c.395C>T (p.Ala132Val)
NM_030943.4(AMN):c.43G>T (p.Ala15Ser)
NM_030943.4(AMN):c.44-7_44-5del rs774101952
NM_030943.4(AMN):c.440G>C (p.Ser147Thr)
NM_030943.4(AMN):c.454G>A (p.Val152Met)
NM_030943.4(AMN):c.481G>T (p.Val161Leu)
NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln)
NM_030943.4(AMN):c.56C>T (p.Ala19Val) rs979571435
NM_030943.4(AMN):c.62C>T (p.Ser21Phe)
NM_030943.4(AMN):c.652-20A>G
NM_030943.4(AMN):c.682C>G (p.Gln228Glu) rs1163522093
NM_030943.4(AMN):c.712G>A (p.Ala238Thr)
NM_030943.4(AMN):c.754C>T (p.Leu252Phe)
NM_030943.4(AMN):c.806G>T (p.Arg269Leu)
NM_030943.4(AMN):c.855C>G (p.His285Gln)
NM_030943.4(AMN):c.864G>T (p.Gln288His)
NM_030943.4(AMN):c.873_874dup (p.Ser292fs) rs2139311797
NM_030943.4(AMN):c.892T>C (p.Ser298Pro)
NM_030943.4(AMN):c.914C>T (p.Thr305Met)

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