ClinVar Miner

List of variants reported as pathogenic for Christianson syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter) rs122461162
NM_001379110.1(SLC9A6):c.1573G>T (p.Glu525Ter) rs398123003
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001379110.1(SLC9A6):c.447+3_447+4delinsCC rs730882187
NM_001379110.1(SLC9A6):c.452_453del (p.His151fs) rs730882188
NM_001379110.1(SLC9A6):c.704_709del (p.Glu235_Ser236del) rs886037619
NM_001379110.1(SLC9A6):c.856_864del (p.Gly286_Ala288del) rs398122849

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