ClinVar Miner

List of variants reported as likely benign for Left-right axis malformations

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_003240.5(LEFTY2):c.*496T>G rs6697182 0.04106
NM_003240.5(LEFTY2):c.*229C>T rs6662343 0.02097
NM_003240.5(LEFTY2):c.*317C>G rs114492272 0.00740
NM_003240.5(LEFTY2):c.214C>T (p.Arg72Cys) rs141680926 0.00096
NM_003240.5(LEFTY2):c.275C>T (p.Ser92Leu) rs366439 0.00051
NM_003240.5(LEFTY2):c.375C>T (p.Val125=) rs757892012 0.00026
NM_003240.5(LEFTY2):c.1077C>T (p.Leu359=) rs143844031 0.00021
NM_003240.5(LEFTY2):c.1073C>T (p.Ala358Val) rs151034245 0.00016
NM_003240.5(LEFTY2):c.162C>T (p.Pro54=) rs576461272 0.00014
NM_003240.5(LEFTY2):c.276G>C (p.Ser92=) rs773224522 0.00014
NM_003240.5(LEFTY2):c.738-9C>T rs576554454 0.00012
NM_003240.5(LEFTY2):c.639C>T (p.Ser213=) rs780082623 0.00009
NM_003240.5(LEFTY2):c.1074G>T (p.Ala358=) rs561486852 0.00006
NM_003240.5(LEFTY2):c.54C>T (p.Pro18=) rs370508860 0.00006
NM_003240.5(LEFTY2):c.90C>T (p.Ser30=) rs776142871 0.00006
NM_003240.5(LEFTY2):c.669G>T (p.Ser223=) rs372720820 0.00005
NM_003240.5(LEFTY2):c.748G>A (p.Asp250Asn) rs141625209 0.00003
NM_003240.5(LEFTY2):c.810T>C (p.Ile270=) rs751370455 0.00003
NM_003240.5(LEFTY2):c.138C>T (p.Ala46=) rs764560817 0.00002
NM_003240.5(LEFTY2):c.405G>A (p.Arg135=) rs1260832644 0.00002
NM_003240.5(LEFTY2):c.69C>T (p.Thr23=) rs750632817 0.00002
NM_003240.5(LEFTY2):c.828G>A (p.Lys276=) rs1257327332 0.00002
NM_003240.5(LEFTY2):c.114C>T (p.Ser38=) rs375073116 0.00001
NM_003240.5(LEFTY2):c.372G>C (p.Pro124=) rs951676207 0.00001
NM_003240.5(LEFTY2):c.513C>T (p.His171=) rs1024178424 0.00001
NM_003240.5(LEFTY2):c.621T>C (p.His207=) rs746743976 0.00001
NM_003240.5(LEFTY2):c.631C>T (p.Leu211=) rs779092914 0.00001
NM_003240.5(LEFTY2):c.81C>T (p.Leu27=) rs764757236 0.00001
NM_003240.5(LEFTY2):c.858G>A (p.Pro286=) rs772445393 0.00001
NM_003240.5(LEFTY2):c.138C>G (p.Ala46=) rs764560817
NM_003240.5(LEFTY2):c.168C>T (p.His56=)
NM_003240.5(LEFTY2):c.300G>A (p.Val100=)
NM_003240.5(LEFTY2):c.303C>T (p.Phe101=)
NM_003240.5(LEFTY2):c.348C>A (p.Ala116=) rs755946624
NM_003240.5(LEFTY2):c.348C>G (p.Ala116=)
NM_003240.5(LEFTY2):c.348C>T (p.Ala116=) rs755946624
NM_003240.5(LEFTY2):c.453C>T (p.Arg151=) rs2102683275
NM_003240.5(LEFTY2):c.486C>T (p.Leu162=)
NM_003240.5(LEFTY2):c.497+14_497+15insGTCGCGG
NM_003240.5(LEFTY2):c.498-17T>C
NM_003240.5(LEFTY2):c.498-19C>G
NM_003240.5(LEFTY2):c.636G>C (p.Ala212=) rs1576156776
NM_003240.5(LEFTY2):c.738-18C>T
NM_003240.5(LEFTY2):c.747C>T (p.Gly249=)
NM_003240.5(LEFTY2):c.957G>A (p.Ser319=)
NM_003240.5(LEFTY2):c.969G>A (p.Ser323=)

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