ClinVar Miner

List of variants in gene SLC9A6 reported as likely pathogenic

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Total variants: 29
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq26.3(chrX:135092601-135092742)x4
NC_000023.10:g.(?_135080247)_(135084392_?)dup
NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs) rs1064793575
NM_001379110.1(SLC9A6):c.1159C>T (p.His387Tyr) rs2148179162
NM_001379110.1(SLC9A6):c.1186G>A (p.Gly396Arg) rs2521333666
NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs) rs2521333744
NM_001379110.1(SLC9A6):c.1316G>A (p.Gly439Asp) rs1569525357
NM_001379110.1(SLC9A6):c.1423_1424insCA (p.Gly475fs) rs2148189993
NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs) rs2148190013
NM_001379110.1(SLC9A6):c.1625_1643del (p.Ala542fs)
NM_001379110.1(SLC9A6):c.1661+1G>A rs796053283
NM_001379110.1(SLC9A6):c.1662-19_1662-3del rs1569525894
NM_001379110.1(SLC9A6):c.170G>T (p.Gly57Val) rs2148143998
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001379110.1(SLC9A6):c.413C>A (p.Pro138His)
NM_001379110.1(SLC9A6):c.442_444delinsC (p.Lys148fs) rs2148149936
NM_001379110.1(SLC9A6):c.448-9_459del rs2521182259
NM_001379110.1(SLC9A6):c.460C>T (p.Arg154Ter)
NM_001379110.1(SLC9A6):c.524+5G>A rs796053284
NM_001379110.1(SLC9A6):c.55A>G (p.Ser19Gly) rs2089324047
NM_001379110.1(SLC9A6):c.565_583del (p.Gly189fs)
NM_001379110.1(SLC9A6):c.638-1G>A rs2148156504
NM_001379110.1(SLC9A6):c.638-2A>G rs2521219756
NM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del) rs1603201557
NM_001379110.1(SLC9A6):c.743+2dup rs1603201598
NM_001379110.1(SLC9A6):c.743+3_743+6del rs2148156632
NM_001379110.1(SLC9A6):c.886-1C>T
NM_001379110.1(SLC9A6):c.991+1G>A rs2521310197
NM_001379110.1(SLC9A6):c.991G>C (p.Gly331Arg) rs2148174022

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