ClinVar Miner

List of variants in gene ARID1A reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006015.6(ARID1A):c.1529A>C (p.Gln510Pro) rs200920292 0.00020
NM_006015.6(ARID1A):c.5647A>T (p.Thr1883Ser) rs150076443 0.00004
NM_006015.6(ARID1A):c.2881A>C (p.Met961Leu) rs201899604 0.00002
NM_006015.6(ARID1A):c.4669C>G (p.Pro1557Ala) rs778655919 0.00001
NM_006015.6(ARID1A):c.1649C>G (p.Pro550Arg)
NM_006015.6(ARID1A):c.1844C>T (p.Ala615Val)
NM_006015.6(ARID1A):c.187G>T (p.Val63Leu)
NM_006015.6(ARID1A):c.1952T>C (p.Met651Thr)
NM_006015.6(ARID1A):c.202C>T (p.Pro68Ser)
NM_006015.6(ARID1A):c.2267A>G (p.Asn756Ser)
NM_006015.6(ARID1A):c.2279C>G (p.Pro760Arg)
NM_006015.6(ARID1A):c.2309C>T (p.Ala770Val)
NM_006015.6(ARID1A):c.2345A>G (p.His782Arg)
NM_006015.6(ARID1A):c.2500C>T (p.Pro834Ser)
NM_006015.6(ARID1A):c.2571G>T (p.Arg857Ser)
NM_006015.6(ARID1A):c.2614A>G (p.Met872Val)
NM_006015.6(ARID1A):c.289G>C (p.Glu97Gln)
NM_006015.6(ARID1A):c.2948A>G (p.Asn983Ser)
NM_006015.6(ARID1A):c.317A>G (p.Asn106Ser)
NM_006015.6(ARID1A):c.325C>T (p.Pro109Ser)
NM_006015.6(ARID1A):c.3263C>G (p.Ala1088Gly)
NM_006015.6(ARID1A):c.3325C>T (p.Arg1109Trp)
NM_006015.6(ARID1A):c.3341C>G (p.Pro1114Arg)
NM_006015.6(ARID1A):c.374G>T (p.Gly125Val)
NM_006015.6(ARID1A):c.3793G>A (p.Gly1265Ser)
NM_006015.6(ARID1A):c.3920C>T (p.Pro1307Leu)
NM_006015.6(ARID1A):c.3961C>T (p.Pro1321Ser)
NM_006015.6(ARID1A):c.4403C>T (p.Pro1468Leu)
NM_006015.6(ARID1A):c.4586C>T (p.Thr1529Ile)
NM_006015.6(ARID1A):c.4745T>G (p.Ile1582Ser)
NM_006015.6(ARID1A):c.4796C>T (p.Thr1599Ile)
NM_006015.6(ARID1A):c.497C>T (p.Ala166Val)
NM_006015.6(ARID1A):c.4991T>C (p.Ile1664Thr)
NM_006015.6(ARID1A):c.4993G>A (p.Gly1665Arg) rs1553153329
NM_006015.6(ARID1A):c.5149G>A (p.Val1717Ile)
NM_006015.6(ARID1A):c.5266C>T (p.Pro1756Ser)
NM_006015.6(ARID1A):c.5344G>C (p.Val1782Leu) rs775923229
NM_006015.6(ARID1A):c.5432A>G (p.Lys1811Arg)
NM_006015.6(ARID1A):c.5448C>G (p.Ile1816Met)
NM_006015.6(ARID1A):c.5533C>T (p.Arg1845Trp)
NM_006015.6(ARID1A):c.5633C>G (p.Pro1878Arg)
NM_006015.6(ARID1A):c.5786G>A (p.Ser1929Asn)
NM_006015.6(ARID1A):c.587C>T (p.Ala196Val) rs1352086990
NM_006015.6(ARID1A):c.5989A>G (p.Asn1997Asp) rs1553153700
NM_006015.6(ARID1A):c.6075G>C (p.Lys2025Asn)
NM_006015.6(ARID1A):c.6097A>G (p.Lys2033Glu)
NM_006015.6(ARID1A):c.6399C>G (p.Asp2133Glu) rs1553153768
NM_006015.6(ARID1A):c.6548G>A (p.Arg2183His)
NM_006015.6(ARID1A):c.6661C>A (p.Pro2221Thr)
NM_006015.6(ARID1A):c.91C>G (p.Gln31Glu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.