ClinVar Miner

List of variants in gene RET reported as uncertain significance for Hirschsprung Disease, Dominant

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_020975.6(RET):c.*1020G>T rs886047004
NM_020975.6(RET):c.*1103C>T rs886047005
NM_020975.6(RET):c.*1233T>C rs886047007
NM_020975.6(RET):c.*1278del rs886047008
NM_020975.6(RET):c.*1337A>T rs886047009
NM_020975.6(RET):c.*1345G>T rs886047010
NM_020975.6(RET):c.*358G>T rs886046991
NM_020975.6(RET):c.*368G>T rs756051983
NM_020975.6(RET):c.*446A>G rs886046992
NM_020975.6(RET):c.*453G>T rs886046993
NM_020975.6(RET):c.*509A>G rs886046996
NM_020975.6(RET):c.*553G>T rs886046998
NM_020975.6(RET):c.*600delinsTT rs1588882236
NM_020975.6(RET):c.*749dup rs886047000
NM_020975.6(RET):c.*763C>T rs886047001
NM_020975.6(RET):c.*935C>A rs886047003
NM_020975.6(RET):c.1420C>T (p.Arg474Trp) rs775842917
NM_020975.6(RET):c.1760-12G>A rs377767392
NM_020975.6(RET):c.2467G>A (p.Gly823Arg) rs138847998
NM_020975.6(RET):c.2580G>A (p.Gln860=) rs886046988
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329

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