ClinVar Miner

List of variants in gene ARID1A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006015.6(ARID1A):c.5491C>G (p.Leu1831Val) rs150534917 0.00022
NM_006015.6(ARID1A):c.4669C>G (p.Pro1557Ala) rs778655919 0.00001
NM_006015.6(ARID1A):c.1753CAG[1] (p.Gln586del) rs777762320
NM_006015.6(ARID1A):c.1883T>C (p.Met628Thr)
NM_006015.6(ARID1A):c.2241C>T (p.Ala747=)
NM_006015.6(ARID1A):c.2298G>C (p.Gln766His) rs572510196
NM_006015.6(ARID1A):c.261_275dup (p.Ala88_Gly92dup) rs2080257947
NM_006015.6(ARID1A):c.261_278del (p.Ala88_Gly93del) rs749452696
NM_006015.6(ARID1A):c.3873G>T (p.Glu1291Asp)
NM_006015.6(ARID1A):c.3880A>G (p.Ile1294Val)
NM_006015.6(ARID1A):c.4114C>T (p.Pro1372Ser)
NM_006015.6(ARID1A):c.4316C>T (p.Ala1439Val)
NM_006015.6(ARID1A):c.4368A>G (p.Pro1456=)
NM_006015.6(ARID1A):c.446G>A (p.Gly149Asp) rs2080267760
NM_006015.6(ARID1A):c.456A>T (p.Gln152His)
NM_006015.6(ARID1A):c.5414T>G (p.Leu1805Arg) rs1570621451
NM_006015.6(ARID1A):c.5457G>T (p.Lys1819Asn)
NM_006015.6(ARID1A):c.55C>G (p.Pro19Ala) rs2080253926
NM_006015.6(ARID1A):c.5606G>A (p.Arg1869Gln)
NM_006015.6(ARID1A):c.5626C>T (p.Pro1876Ser)
NM_006015.6(ARID1A):c.5655A>C (p.Ala1885=) rs1256908417
NM_006015.6(ARID1A):c.6267A>C (p.Leu2089=) rs757005517

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