ClinVar Miner

List of variants reported as benign for Renal hypodysplasia/aplasia 1 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 16
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HGVS dbSNP
NM_006953.4(UPK3A):c.-25G>C rs116162068
NM_006953.4(UPK3A):c.272A>T (p.Gln91Leu)
NM_006953.4(UPK3A):c.402C>T (p.Val134=) rs2673088
NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro) rs1057353
NM_006953.4(UPK3A):c.465C>T (p.Pro155=) rs62001037
NM_006953.4(UPK3A):c.549A>G (p.Ser183=) rs1135360
NM_006953.4(UPK3A):c.858A>G (p.Gln286=) rs1057356
NM_020630.5(RET):c.-200A>G rs10900296
NM_020975.6(RET):c.*1116T>C rs2435355
NM_020975.6(RET):c.*1506G>A rs2742241
NM_020975.6(RET):c.*1591G>A rs76759170
NM_020975.6(RET):c.*388G>A rs3026782
NM_020975.6(RET):c.*95C>T rs17028
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483

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