ClinVar Miner

List of variants reported as likely benign for Hereditary xanthinuria type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135 0.01858
NM_000379.4(XDH):c.3405-15T>C rs141728694 0.00516
NM_000379.4(XDH):c.636T>C (p.Phe212=) rs140225517 0.00095
NM_000379.4(XDH):c.101-7C>T rs113007282 0.00069
NM_000379.4(XDH):c.883G>A (p.Asp295Asn) rs142335345 0.00068
NM_000379.4(XDH):c.1911C>T (p.Ser637=) rs142197675 0.00058
NM_000379.4(XDH):c.192G>T (p.Lys64Asn) rs182317768 0.00046
NM_000379.4(XDH):c.793+19G>A rs45625137 0.00043
NM_000379.4(XDH):c.3771G>A (p.Ser1257=) rs45594136 0.00028
NM_000379.4(XDH):c.1773C>T (p.Ala591=) rs145108969 0.00023
NM_000379.4(XDH):c.2460C>T (p.Thr820=) rs143539472 0.00022
NM_000379.4(XDH):c.2969+8C>T rs374442016 0.00016
NM_000379.4(XDH):c.1617G>T (p.Leu539=) rs117399514 0.00013
NM_000379.4(XDH):c.1785C>T (p.Asp595=) rs140066757 0.00013
NM_000379.4(XDH):c.3789G>A (p.Pro1263=) rs202077714 0.00011
NM_000379.4(XDH):c.327C>T (p.His109=) rs370058590 0.00010
NM_000379.4(XDH):c.2631+20G>A rs370658508 0.00009
NM_000379.4(XDH):c.1647G>T (p.Leu549=) rs776000927 0.00004
NM_000379.4(XDH):c.867G>A (p.Ser289=) rs749391188 0.00004
NM_000379.4(XDH):c.816T>C (p.Asn272=) rs770338067 0.00003
NM_000379.4(XDH):c.786G>A (p.Thr262=) rs201436175 0.00002
NM_000379.4(XDH):c.1581G>A (p.Leu527=) rs138859065 0.00001
NM_000379.4(XDH):c.225C>G (p.Ala75=) rs368792036 0.00001
NM_000379.4(XDH):c.3519+13C>G rs923415065 0.00001
NM_000379.4(XDH):c.565-17G>A rs1207902172 0.00001

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