ClinVar Miner

List of variants studied for intellectual disability-hypotonic facies syndrome, X-linked, 1 by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.6(ATRX):c.477del (p.Lys159fs) rs1603240572
NM_000489.6(ATRX):c.5449-7A>G rs2067371776
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu) rs2071445748
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)

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