ClinVar Miner

List of variants in gene GAN reported as pathogenic

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Gene type:
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Total variants: 25
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HGVS dbSNP
GRCh37/hg19 16q23.2(chr16:81380493-81433070)x1
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.1268T>C (p.Ile423Thr) rs119485091
NM_022041.3(GAN):c.1373+1G>A rs1597407138
NM_022041.3(GAN):c.1429C>T (p.Arg477Ter) rs119485094
NM_022041.3(GAN):c.1447C>T (p.Gln483Ter) rs119485089
NM_022041.3(GAN):c.1456G>A (p.Glu486Lys) rs119485088
NM_022041.3(GAN):c.1502+1G>T rs1555511978
NM_022041.3(GAN):c.18_19insA (p.Val7fs) rs1597385624
NM_022041.3(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.3(GAN):c.432C>G (p.Tyr144Ter) rs1555511101
NM_022041.3(GAN):c.43C>A (p.Arg15Ser) rs119485093
NM_022041.3(GAN):c.505G>A (p.Glu169Lys) rs119485095
NM_022041.3(GAN):c.601C>T (p.Arg201Ter) rs119485090
NM_022041.3(GAN):c.633+2T>C rs879254001
NM_022041.3(GAN):c.806G>A (p.Arg269Gln) rs759581558
NM_022041.3(GAN):c.851+1G>A rs747291494
NM_022041.3(GAN):c.877C>T (p.Arg293Ter) rs370358470
NM_022041.4(GAN):c.1162del (p.Glu387_Leu388insTer)
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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