List of variants in gene combination AMN, LOC130056554 reported as uncertain significance for Imerslund-Grasbeck syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_030943.4(AMN):c.989C>A (p.Ala330Glu)	rs542237999	0.00018
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser)	rs1339571276	0.00002
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp)	rs1034430613	0.00001
NM_030943.4(AMN):c.1006+6C>T
NM_030943.4(AMN):c.1007-3C>T	rs1318731733
NM_030943.4(AMN):c.1036A>T (p.Met346Leu)	rs1215795347
NM_030943.4(AMN):c.1056C>A (p.His352Gln)	rs773203683
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del)	rs1034496756
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup)	rs1428691401
NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr)
NM_030943.4(AMN):c.948del (p.Glu317fs)	rs2139312056
NM_030943.4(AMN):c.967C>T (p.Arg323Trp)
NM_030943.4(AMN):c.998C>G (p.Ala333Gly)

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