ClinVar Miner

List of variants in gene RET reported as likely benign for Hirschsprung Disease, Dominant

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_020975.6(RET):c.*1116T>C rs2435355
NM_020975.6(RET):c.*1558A>C rs142572876
NM_020975.6(RET):c.*1583G>A rs192065891
NM_020975.6(RET):c.*1591G>A rs76759170
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.*388G>A rs3026782
NM_020975.6(RET):c.*499dup rs201945709
NM_020975.6(RET):c.*576G>A rs185408658
NM_020975.6(RET):c.*95C>T rs17028
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.1465G>A (p.Asp489Asn) rs9282834
NM_020975.6(RET):c.1523-7C>T rs567967877
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.2508C>T (p.Ser836=) rs1800862
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863
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.337+12G>A rs200468424
NM_020975.6(RET):c.337+9G>A rs2435351
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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