ClinVar Miner

List of variants in gene SLC9A6 reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001042537.1(SLC9A6):c.1012_1020del (p.Gly338_Ala340del) rs398122849
NM_001042537.1(SLC9A6):c.1463-1G>A
NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter) rs122461162
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter) rs398123003
NM_001042537.1(SLC9A6):c.183del (p.Lys61fs) rs587784398
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) rs587784399
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001042537.1(SLC9A6):c.574_575AT[1] (p.Phe193fs)
NM_001042537.1(SLC9A6):c.603+3_603+4delinsCC rs730882187
NM_001042537.1(SLC9A6):c.608_609del (p.His203fs) rs730882188
NM_001042537.1(SLC9A6):c.860_865del (p.Glu287_Ser288del) rs886037619
NM_001042537.1(SLC9A6):c.882del (p.Ala295fs) rs1057519394
NM_001042537:c.916delC

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