ClinVar Miner

List of variants in gene UPK3A reported as likely benign for Renal hypodysplasia/aplasia 1

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Total variants: 12
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HGVS dbSNP
NM_006953.4(UPK3A):c.*26C>T rs570266965
NM_006953.4(UPK3A):c.*73C>T
NM_006953.4(UPK3A):c.259T>G (p.Ser87Ala) rs145106685
NM_006953.4(UPK3A):c.260C>A (p.Ser87Ter) rs138918236
NM_006953.4(UPK3A):c.356T>C (p.Ile119Thr) rs150598171
NM_006953.4(UPK3A):c.417C>T (p.Asn139=)
NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter) rs147609981
NM_006953.4(UPK3A):c.571+1G>A rs145723454
NM_006953.4(UPK3A):c.588G>A (p.Thr196=) rs115882180
NM_006953.4(UPK3A):c.628G>A (p.Val210Ile) rs147247708
NM_006953.4(UPK3A):c.704+8C>G
NM_006953.4(UPK3A):c.90C>T (p.Phe30=) rs199656309

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