ClinVar Miner

List of variants in gene PITX2 reported as uncertain significance for Axenfeld-Rieger syndrome type 1

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Total variants: 38
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HGVS dbSNP
NM_000325.6(PITX2):c.*107A>C
NM_000325.6(PITX2):c.*119T>A rs765040142
NM_000325.6(PITX2):c.*173G>A
NM_000325.6(PITX2):c.*176A>T rs567517676
NM_000325.6(PITX2):c.*264A>C rs886059006
NM_000325.6(PITX2):c.*370G>C rs886059005
NM_000325.6(PITX2):c.*440C>T
NM_000325.6(PITX2):c.*522T>C rs188349821
NM_000325.6(PITX2):c.*572T>C rs886059003
NM_000325.6(PITX2):c.*611A>G rs886059002
NM_000325.6(PITX2):c.*687A>G
NM_000325.6(PITX2):c.*696A>C
NM_000325.6(PITX2):c.282G>T (p.Arg94=)
NM_000325.6(PITX2):c.412-7C>T
NM_000325.6(PITX2):c.430C>G (p.Arg144Gly) rs1057519485
NM_000325.6(PITX2):c.433G>C (p.Ala145Pro) rs1057519486
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn)
NM_153427.2(PITX2):c.-1078C>A
NM_153427.2(PITX2):c.-1092G>A
NM_153427.2(PITX2):c.-1137G>A
NM_153427.2(PITX2):c.-1209C>T
NM_153427.2(PITX2):c.-1411C>T
NM_153427.2(PITX2):c.-1421G>C
NM_153427.2(PITX2):c.-1422C>A
NM_153427.2(PITX2):c.-1491G>A
NM_153427.2(PITX2):c.-245G>A
NM_153427.2(PITX2):c.-270A>G
NM_153427.2(PITX2):c.-300A>T
NM_153427.2(PITX2):c.-40G>A
NM_153427.2(PITX2):c.-429C>G
NM_153427.2(PITX2):c.-436G>C
NM_153427.2(PITX2):c.-483C>T
NM_153427.2(PITX2):c.-501T>G
NM_153427.2(PITX2):c.-515C>T
NM_153427.2(PITX2):c.-53G>A
NM_153427.2(PITX2):c.-670C>T
NM_153427.2(PITX2):c.-920C>T
NM_153427.2(PITX2):c.-966A>G

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