ClinVar Miner

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

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Total variants: 49
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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
NM_020630.5(RET):c.-196C>A rs10900297
NM_020975.6(RET):c.*1558A>C rs142572876
NM_020975.6(RET):c.*1583G>A rs192065891
NM_020975.6(RET):c.*1599G>A rs145954635
NM_020975.6(RET):c.*1742G>A rs143369221
NM_020975.6(RET):c.*1870C>T rs146771196
NM_020975.6(RET):c.*1969T>C rs3026785
NM_020975.6(RET):c.*330A>G rs141460872
NM_020975.6(RET):c.*492G>C
NM_020975.6(RET):c.*499dup rs201945709
NM_020975.6(RET):c.*576G>A rs185408658
NM_020975.6(RET):c.-160G>T
NM_020975.6(RET):c.1063+9G>A rs765463636
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.6(RET):c.1264-5C>T rs9282835
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.6(RET):c.1353G>T (p.Thr451=) rs201568301
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2418C>T (p.Tyr806=) rs553418132
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.2976G>A (p.Pro992=) rs528823385
NM_020975.6(RET):c.3188-9C>T rs551159582
NM_020975.6(RET):c.337+12G>A rs200468424
NM_020975.6(RET):c.337+9G>A rs2435351
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185

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