ClinVar Miner

List of variants in gene SLC9A6 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq26.3(chrX:135067386-135068117)x0
NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs) rs1064793575
NM_001379110.1(SLC9A6):c.1224_1230delinsGTCTTGGGAAGAGCT (p.Asn408fs) rs1556620027
NM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter) rs122461162
NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs) rs2148190013
NM_001379110.1(SLC9A6):c.1570C>T (p.Gln524Ter)
NM_001379110.1(SLC9A6):c.190dup (p.Leu64fs) rs796053293
NM_001379110.1(SLC9A6):c.743+1G>A rs1556617455
NM_001379110.1(SLC9A6):c.743+3_743+6del rs2148156632
NM_001379110.1(SLC9A6):c.797_798del (p.Thr266fs) rs796053297
NM_006359.2(SLC9A6):c.509_510delGA rs1064795183
NM_006359.2(SLC9A6):c.585dupG rs796053291

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