ClinVar Miner

List of variants in gene SLC9A6 reported as likely pathogenic for Christianson syndrome

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs) rs1064793575
NM_001379110.1(SLC9A6):c.1186G>A (p.Gly396Arg)
NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs)
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.170G>T (p.Gly57Val) rs2148143998
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001379110.1(SLC9A6):c.448-9_459del
NM_001379110.1(SLC9A6):c.638-1G>A rs2148156504
NM_001379110.1(SLC9A6):c.638-2A>G
NM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del) rs1603201557
NM_001379110.1(SLC9A6):c.991+1G>A

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