ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP
GRCh37/hg19 16p13.3(chr16:1568217-1570809)
NC_000016.9:g.(?_1608740_1652441del
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) rs1555486629
NM_014714.4(IFT140):c.2399+1G>T rs376586707
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter)
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) rs1567330535
NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter)
NM_014714.4(IFT140):c.2944_2948delinsGGGG (p.Arg982fs)
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900
NM_014714.4(IFT140):c.3981del (p.Arg1328fs)
NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg) rs431905520
NM_014714.4:c.(?_-1)_(*1_?)del

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