ClinVar Miner

List of variants in gene IFT172 studied for not provided

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Gene type:
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Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.2116-254A>G rs780108 0.57077
NM_015662.3(IFT172):c.2115+180C>T rs780110 0.55766
NM_015662.3(IFT172):c.2116-31T>C rs780107 0.47348
NM_015662.3(IFT172):c.1692+310A>G rs1647266 0.47341
NM_015662.3(IFT172):c.3372-164C>T rs780104 0.47338
NM_015662.3(IFT172):c.402+99A>G rs2272417 0.39095
NM_015662.3(IFT172):c.4659+75C>T rs11126999 0.37630
NM_015662.3(IFT172):c.3372-236G>A rs79740025 0.11750
NM_015662.3(IFT172):c.3372-251G>A rs6734392 0.08432
NM_015662.3(IFT172):c.39+74G>A rs7583698 0.07849
NM_015662.3(IFT172):c.1326-196G>A rs56047188 0.06870
NM_015662.3(IFT172):c.3466-56T>C rs10166551 0.03786
NM_015662.3(IFT172):c.2877+249C>T rs704792 0.03745
NM_015662.3(IFT172):c.1829+37G>C rs1647275 0.03744
NM_015662.3(IFT172):c.1830-98G>T rs139218763 0.03132
NM_015662.3(IFT172):c.571-194A>G rs111315397 0.02879
NM_015662.3(IFT172):c.1829+70G>T rs78494876 0.01186
NM_015662.3(IFT172):c.4429-246G>A rs149837893 0.01183
NM_015662.3(IFT172):c.483-51G>A rs115840615 0.01177
NM_015662.3(IFT172):c.1221+113G>A rs115428958 0.01168
NM_015662.3(IFT172):c.184-81A>T rs55759707 0.01062
NM_015662.3(IFT172):c.2877+148C>T rs144683582 0.00941
NM_015662.3(IFT172):c.1693-238A>T rs116322578 0.00828
NM_015662.3(IFT172):c.3229-255C>T rs111438177 0.00825
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.1692+65C>T rs1728913 0.00566
NM_015662.3(IFT172):c.183+63C>T rs780091 0.00563
NM_015662.3(IFT172):c.2521+243T>C rs547551795 0.00544
NM_015662.3(IFT172):c.4659+26A>G rs78287953 0.00533
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.482+56G>A rs183677465 0.00526
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_015662.3(IFT172):c.1412-161G>C rs144893559 0.00453
NM_015662.3(IFT172):c.1168-72G>A rs144232583 0.00437
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_015662.3(IFT172):c.40-196G>A rs115773832 0.00359
NM_015662.3(IFT172):c.3371+26G>A rs183564315 0.00333
NM_015662.3(IFT172):c.4161-27G>A rs77876269 0.00332
NM_015662.3(IFT172):c.571-34G>A rs111419193 0.00324
NM_015662.3(IFT172):c.297-52C>T rs149833887 0.00187
NM_015662.3(IFT172):c.3229-40G>A rs113262528 0.00172
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp) rs139560074 0.00099
NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln) rs78631901 0.00083
NM_015662.3(IFT172):c.402+8A>C rs184565714 0.00083
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile) rs143491198 0.00061
NM_015662.3(IFT172):c.786-12A>G rs373665754 0.00061
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp) rs184506506 0.00036
NM_015662.3(IFT172):c.3474C>T (p.Phe1158=) rs534566990 0.00035
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His) rs369466577 0.00031
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp) rs189236939 0.00025
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser) rs147303046 0.00022
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_015662.3(IFT172):c.792G>A (p.Arg264=) rs138730915 0.00020
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys) rs147668131 0.00019
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.2436C>T (p.Tyr812=) rs143142494 0.00016
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys) rs146290725 0.00015
NM_015662.3(IFT172):c.146G>A (p.Arg49Gln) rs151097967 0.00011
NM_015662.3(IFT172):c.1991A>G (p.Asn664Ser) rs199631887 0.00011
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser) rs369780709 0.00011
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys) rs746340772 0.00011
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp) rs141043554 0.00009
NM_015662.3(IFT172):c.2122G>A (p.Val708Met) rs140506322 0.00009
NM_015662.3(IFT172):c.247A>G (p.Ile83Val) rs142227350 0.00009
NM_015662.3(IFT172):c.1331G>A (p.Arg444His) rs751965696 0.00008
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_015662.3(IFT172):c.1525-19C>T rs764463970 0.00007
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr) rs377646246 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_015662.3(IFT172):c.1168-7G>A rs373380537 0.00005
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln) rs137868356 0.00004
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg) rs762521619 0.00004
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2443-3C>T rs774328767 0.00004
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val) rs376824384 0.00003
NM_015662.3(IFT172):c.602A>G (p.Tyr201Cys) rs768237211 0.00003
NM_015662.3(IFT172):c.1105T>C (p.Leu369=) rs200877837 0.00002
NM_015662.3(IFT172):c.1243G>A (p.Gly415Arg) rs746834072 0.00002
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln) rs759282959 0.00002
NM_015662.3(IFT172):c.40-6C>G rs747734190 0.00002
NM_015662.3(IFT172):c.529G>A (p.Val177Ile) rs754880269 0.00002
NM_015662.3(IFT172):c.1609G>A (p.Val537Met) rs868020223 0.00001
NM_015662.3(IFT172):c.2331G>C (p.Gly777=) rs1244485412 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00001
NM_015662.3(IFT172):c.3387G>A (p.Ala1129=) rs369025741 0.00001
NM_015662.3(IFT172):c.3480G>T (p.Glu1160Asp) rs201940166 0.00001
NM_015662.3(IFT172):c.379G>A (p.Val127Ile) rs763950958 0.00001
NM_015662.3(IFT172):c.4003G>A (p.Val1335Ile) rs755670491 0.00001
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu) rs760582917 0.00001
NM_015662.3(IFT172):c.4239T>G (p.Asp1413Glu) rs748345321 0.00001
NM_015662.3(IFT172):c.4248T>C (p.Ala1416=) rs754200053 0.00001
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala) rs761701917 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015662.3(IFT172):c.666T>C (p.Tyr222=) rs753217975 0.00001
NM_015662.3(IFT172):c.790C>T (p.Arg264Trp) rs750783565 0.00001
NC_000002.12:g.27489962C>A rs149117895
NM_015662.3(IFT172):c.1005+37C>T rs780114
NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter) rs201862538
NM_015662.3(IFT172):c.1139G>A (p.Gly380Glu)
NM_015662.3(IFT172):c.1161T>C (p.Leu387=)
NM_015662.3(IFT172):c.1401T>C (p.Thr467=) rs200010000
NM_015662.3(IFT172):c.1462G>T (p.Val488Leu) rs975612115
NM_015662.3(IFT172):c.1478T>C (p.Leu493Pro) rs1282056614
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg) rs1282056614
NM_015662.3(IFT172):c.1524+211del rs34330432
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015662.3(IFT172):c.1530T>C (p.His510=)
NM_015662.3(IFT172):c.1702A>G (p.Ile568Val)
NM_015662.3(IFT172):c.1716G>A (p.Arg572=) rs1572778219
NM_015662.3(IFT172):c.1977C>G (p.Phe659Leu)
NM_015662.3(IFT172):c.1993_1994delinsAT (p.Glu665Met) rs1558384894
NM_015662.3(IFT172):c.2116-5C>T rs754154643
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.217G>C (p.Ala73Pro)
NM_015662.3(IFT172):c.2339C>T (p.Ala780Val) rs2148506384
NM_015662.3(IFT172):c.2365C>G (p.Arg789Gly) rs202024173
NM_015662.3(IFT172):c.2476C>T (p.Gln826Ter) rs1558380331
NM_015662.3(IFT172):c.2521+183G>C rs535899677
NM_015662.3(IFT172):c.2877+48T>G rs780106
NM_015662.3(IFT172):c.2957A>C (p.Lys986Thr)
NM_015662.3(IFT172):c.3132A>G (p.Arg1044=) rs1572750130
NM_015662.3(IFT172):c.3366C>T (p.Asp1122=) rs1389894777
NM_015662.3(IFT172):c.3401G>A (p.Arg1134Gln) rs148624326
NM_015662.3(IFT172):c.3448A>G (p.Met1150Val) rs769882549
NM_015662.3(IFT172):c.3475G>T (p.Glu1159Ter) rs748244135
NM_015662.3(IFT172):c.39+5G>A rs1669021752
NM_015662.3(IFT172):c.4290dup (p.Ile1431fs) rs1553322497
NM_015662.3(IFT172):c.4335T>C (p.Tyr1445=)
NM_015662.3(IFT172):c.4346A>G (p.Tyr1449Cys)
NM_015662.3(IFT172):c.4429-227C>G rs140177261
NM_015662.3(IFT172):c.4487G>T (p.Cys1496Phe) rs149435148
NM_015662.3(IFT172):c.4540-6_4540-4del rs1572716696
NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro) rs587777080
NM_015662.3(IFT172):c.463G>T (p.Val155Leu) rs149969430
NM_015662.3(IFT172):c.4660-153dup rs11430923
NM_015662.3(IFT172):c.570+269_570+270dup rs10651081
NM_015662.3(IFT172):c.570+269_570+271dup rs10651081
NM_015662.3(IFT172):c.570+269dup rs10651081
NM_015662.3(IFT172):c.571-193TG[10] rs71401571
NM_015662.3(IFT172):c.571-193TG[13] rs71401571
NM_015662.3(IFT172):c.571-193TG[15] rs71401571
NM_015662.3(IFT172):c.748C>G (p.Pro250Ala) rs1013134780
NM_015662.3(IFT172):c.911G>A (p.Gly304Asp) rs1553335843

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