ClinVar Miner

List of variants in gene IFT172 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile) rs143491198 0.00061
NM_015662.3(IFT172):c.792G>A (p.Arg264=) rs138730915 0.00020
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln) rs202111577 0.00017
NM_015662.3(IFT172):c.2436C>T (p.Tyr812=) rs143142494 0.00016
NM_015662.3(IFT172):c.1161T>C (p.Leu387=)
NM_015662.3(IFT172):c.1530T>C (p.His510=)
NM_015662.3(IFT172):c.4335T>C (p.Tyr1445=)

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