ClinVar Miner

List of variants reported as likely pathogenic for Andermann syndrome

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Total variants: 32
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HGVS dbSNP
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.1650-1G>C rs1555378707
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2043-2A>G rs1372841592
NM_001365088.1(SLC12A6):c.2162+1G>A rs1555377971
NM_001365088.1(SLC12A6):c.2416G>T (p.Glu806Ter) rs1057516271
NM_001365088.1(SLC12A6):c.2423dup (p.Leu808fs) rs1057516435
NM_001365088.1(SLC12A6):c.2437-2A>G rs1057516337
NM_001365088.1(SLC12A6):c.2632+1G>A rs1057516925
NM_001365088.1(SLC12A6):c.2633-1G>A rs1555377252
NM_001365088.1(SLC12A6):c.2803-1G>C rs1057516378
NM_001365088.1(SLC12A6):c.2803-1G>T rs1057516378
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262
NM_001365088.1(SLC12A6):c.281_294del (p.Gln94fs) rs1555384171
NM_001365088.1(SLC12A6):c.2950_2959del (p.Ser984fs) rs1057517334
NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter) rs573444140
NM_001365088.1(SLC12A6):c.298del (p.Glu100fs) rs1555384169
NM_001365088.1(SLC12A6):c.3216dup (p.Asn1073Ter) rs1555376818
NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs) rs1057517289
NM_001365088.1(SLC12A6):c.3227+1G>A rs1057516969
NM_001365088.1(SLC12A6):c.3304_3308del (p.Lys1102fs) rs1057516752
NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter) rs768514327
NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter) rs1555376688
NM_001365088.1(SLC12A6):c.3361+2T>G rs1555376682
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229
NM_001365088.1(SLC12A6):c.543+2T>G rs1555381538
NM_001365088.1(SLC12A6):c.550dup (p.Gln184fs) rs1057517109
NM_001365088.1(SLC12A6):c.569_570GT[3] (p.Tyr192fs) rs775111365
NM_001365088.1(SLC12A6):c.630G>A (p.Trp210Ter) rs1057516898
NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter) rs1057516456
NM_001365088.1(SLC12A6):c.745+2T>A rs1555380998
NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter) rs35583475

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