ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as pathogenic for Saldino-Mainzer syndrome; Retinitis pigmentosa 80

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Total variants: 5
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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.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522

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