ClinVar Miner

List of variants in gene IFT172 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_015662.3(IFT172):c.2858G>A (p.Arg953His) rs704793 0.00606
NM_015662.3(IFT172):c.4428+5C>G rs114235369 0.00521
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_015662.3(IFT172):c.3357C>T (p.His1119=) rs76787560 0.00238
NM_015662.3(IFT172):c.402+8A>C rs184565714 0.00083
NM_015662.3(IFT172):c.3186G>A (p.Val1062=) rs143922405 0.00078
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp) rs139223261 0.00017
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln) rs202111577 0.00017
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys) rs746340772 0.00011
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys) rs148710037 0.00004
NM_015662.3(IFT172):c.707G>A (p.Arg236His) rs768290728 0.00003
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys) rs1036729851 0.00002
NM_015662.3(IFT172):c.1609G>A (p.Val537Met) rs868020223 0.00001
NM_015662.3(IFT172):c.649C>T (p.Arg217Trp) rs773661262 0.00001
NM_015662.3(IFT172):c.4528_4533dup (p.Leu1510_Phe1511dup) rs1553321803

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