ClinVar Miner

List of variants in gene GAN reported as pathogenic by Invitae

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Total variants: 12
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HGVS dbSNP
NC_000016.10:g.(?_81315104)_(81377606_?)del
NM_022041.3(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.3(GAN):c.1157del (p.Lys386fs) rs1555511861
NM_022041.3(GAN):c.1456G>A (p.Glu486Lys) rs119485088
NM_022041.3(GAN):c.1502+1G>T rs1555511978
NM_022041.3(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.3(GAN):c.851+1G>A rs747291494
NM_022041.3(GAN):c.877C>T (p.Arg293Ter) rs370358470
NM_022041.4(GAN):c.1485C>A (p.Tyr495Ter)
NM_022041.4(GAN):c.384del (p.Gly127_Cys128insTer)
NM_022041.4(GAN):c.902dup (p.Pro301_Asn302insTer)
NM_022041.4(GAN):c.993del (p.Phe331fs)

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