ClinVar Miner

List of variants reported as likely benign for X-linked intellectual disability by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (151):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg) rs2230928 0.00390
NM_001330360.2(POLA1):c.2236T>C (p.Tyr746His) rs2230927 0.00115
NM_001111125.3(IQSEC2):c.2698G>A (p.Val900Ile) rs1461166570 0.00002
NM_001008537.3(NEXMIF):c.4405C>T (p.Arg1469Ter) rs763067676 0.00001
NM_000489.6(ATRX):c.1446A>T (p.Glu482Asp)
NM_001039591.3(USP9X):c.6434A>T (p.Gln2145Leu)
NM_005120.3(MED12):c.949T>C (p.Ser317Pro)

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