ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as pathogenic for Saldino-Mainzer syndrome

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 0.00004
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) rs1206753537 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123 0.00002
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) rs1555491448 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter) rs1424099914 0.00001
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) rs762817061 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_014714.4(IFT140):c.634+5G>A rs1323647622 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NC_000016.10:g.1602592del rs2035852852
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs)
NM_014714.4(IFT140):c.1114del (p.Gln372fs)
NM_014714.4(IFT140):c.1346del (p.Val449fs)
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.157_160del (p.Val53fs)
NM_014714.4(IFT140):c.169del (p.His57fs)
NM_014714.4(IFT140):c.217_218del (p.Arg73fs) rs2035847573
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2T>C (p.Met1Thr)
NM_014714.4(IFT140):c.378del (p.Leu127fs)
NM_014714.4(IFT140):c.482dup (p.Pro162fs) rs763737398
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) rs559314300
NM_014714.4(IFT140):c.54del (p.Ser19fs) rs2142100542
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter) rs2035218747
NM_014714.4(IFT140):c.565del (p.Ser189fs)
NM_014714.4(IFT140):c.857_860del (p.Ile286fs) rs431905506
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter)
NM_014714.4(IFT140):c.910del (p.Asp304fs)
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) rs1307461796
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) rs387907193

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