ClinVar Miner

List of variants reported as benign for Renal hypodysplasia/aplasia 1

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003638.3(ITGA8):c.2981T>C (p.Val994Ala) rs1041135 0.96141
NM_020975.6(RET):c.*1506G>A rs2742241 0.83094
NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro) rs1057353 0.78464
NM_003638.3(ITGA8):c.444+14G>A rs1954181 0.77958
NM_020630.5(RET):c.-200A>G rs10900296 0.77447
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_006953.4(UPK3A):c.402C>T (p.Val134=) rs2673088 0.61535
NM_003638.3(ITGA8):c.803-21G>C rs7100510 0.60341
NM_006953.4(UPK3A):c.549A>G (p.Ser183=) rs1135360 0.56430
NM_006953.4(UPK3A):c.858A>G (p.Gln286=) rs1057356 0.50960
NM_020975.6(RET):c.*1116T>C rs2435355 0.22170
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_020975.6(RET):c.*388G>A rs3026782 0.17032
NM_020975.6(RET):c.*95C>T rs17028 0.16697
NM_006953.4(UPK3A):c.-25G>C rs116162068 0.06869
NM_020975.6(RET):c.*1591G>A rs76759170 0.03751
NM_006953.4(UPK3A):c.465C>T (p.Pro155=) rs62001037 0.02422
NM_006953.4(UPK3A):c.272A>T (p.Gln91Leu) rs6006979 0.01361
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047

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