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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006953.4(UPK3A):c.588G>A (p.Thr196=)	rs115882180	0.00735
NM_006953.4(UPK3A):c.259T>G (p.Ser87Ala)	rs145106685	0.00588
NM_006953.4(UPK3A):c.260C>A (p.Ser87Ter)	rs138918236	0.00587
NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter)	rs147609981	0.00387
NM_006953.4(UPK3A):c.571+1G>A	rs145723454	0.00371
NM_006953.4(UPK3A):c.356T>C (p.Ile119Thr)	rs150598171	0.00369
NM_006953.4(UPK3A):c.90C>T (p.Phe30=)	rs199656309	0.00054
NM_006953.4(UPK3A):c.628G>A (p.Val210Ile)	rs147247708	0.00040
NM_006953.4(UPK3A):c.*73C>T	rs534707412	0.00026
NM_006953.4(UPK3A):c.417C>T (p.Asn139=)	rs531623690	0.00003
NM_006953.4(UPK3A):c.*26C>T	rs570266965
NM_006953.4(UPK3A):c.704+8C>G	rs112177270

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