ClinVar Miner

List of variants in gene ARNT2 reported as uncertain significance for Webb-Dattani syndrome

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014862.4(ARNT2):c.1000C>T (p.Pro334Ser) rs145079722 0.00024
NM_014862.4(ARNT2):c.1414G>A (p.Gly472Ser) rs138241250 0.00007
NM_014862.4(ARNT2):c.1589C>A (p.Ser530Tyr) rs771365661 0.00001
NM_014862.4(ARNT2):c.1222C>G (p.Arg408Gly) rs142574625
NM_014862.4(ARNT2):c.726-3T>G rs1897384694

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