ClinVar Miner

List of variants reported as uncertain significance for Cranioectodermal dysplasia 1 by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_052989.3(IFT122):c.2760G>A (p.Met920Ile) rs374188891 0.00019
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp) rs199886551 0.00019
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 0.00017
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly) rs755556032 0.00015
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn) rs371325633 0.00007
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln) rs146270512 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.273-268A>T rs376246143 0.00006
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys) rs771499492 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_052989.3(IFT122):c.3046C>T (p.Arg1016Trp) rs776052135 0.00005
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) rs76007598 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.2720C>T (p.Ala907Val) rs377690924 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3073C>G (p.Leu1025Val) rs778888913 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe) rs777645844 0.00004
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser) rs754782458 0.00004
NM_052989.3(IFT122):c.849C>T (p.Pro283=) rs771115196 0.00004
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu) rs149915993 0.00003
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser) rs758194778 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 0.00003
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His) rs143602964 0.00003
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu) rs751262275 0.00003
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.2393G>A (p.Arg798His) rs755677495 0.00002
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) rs767833675 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.511C>T (p.Arg171Trp) rs1064794186 0.00002
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu) rs769712676 0.00001
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn) rs768644199 0.00001
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp) rs774723842 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2245A>T (p.Met749Leu) rs794727330 0.00001
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn) rs1012943423 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala) rs565504126 0.00001
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys) rs750010740 0.00001
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser) rs767491295 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met) rs147517019 0.00001
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys) rs373212863 0.00001
NM_052989.3(IFT122):c.-12A>G
NM_052989.3(IFT122):c.1027G>A (p.Gly343Ser)
NM_052989.3(IFT122):c.1028G>T (p.Gly343Val)
NM_052989.3(IFT122):c.1091C>T (p.Ala364Val)
NM_052989.3(IFT122):c.113A>G (p.Tyr38Cys)
NM_052989.3(IFT122):c.1174A>G (p.Lys392Glu)
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln) rs1405512091
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
NM_052989.3(IFT122):c.124G>T (p.Asp42Tyr)
NM_052989.3(IFT122):c.1310A>T (p.Asn437Ile)
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
NM_052989.3(IFT122):c.1351-13G>A
NM_052989.3(IFT122):c.137T>G (p.Leu46Arg)
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
NM_052989.3(IFT122):c.1447C>G (p.Pro483Ala)
NM_052989.3(IFT122):c.1471G>C (p.Gly491Arg)
NM_052989.3(IFT122):c.1488+16C>T
NM_052989.3(IFT122):c.1564A>G (p.Met522Val)
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
NM_052989.3(IFT122):c.1610C>T (p.Thr537Ile)
NM_052989.3(IFT122):c.1651C>A (p.Gln551Lys)
NM_052989.3(IFT122):c.1653+3G>A
NM_052989.3(IFT122):c.1669A>G (p.Ser557Gly)
NM_052989.3(IFT122):c.1713G>A (p.Ser571=)
NM_052989.3(IFT122):c.1773G>C (p.Gln591His)
NM_052989.3(IFT122):c.1835C>T (p.Ala612Val)
NM_052989.3(IFT122):c.1837G>A (p.Val613Met)
NM_052989.3(IFT122):c.1851+3A>G
NM_052989.3(IFT122):c.1852-8T>C
NM_052989.3(IFT122):c.1853C>T (p.Ser618Phe)
NM_052989.3(IFT122):c.1858C>G (p.Pro620Ala)
NM_052989.3(IFT122):c.1878T>G (p.Asp626Glu)
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn) rs777051654
NM_052989.3(IFT122):c.1910_1929delinsGCGTG (p.Ala637_Asp643delinsGlyVal)
NM_052989.3(IFT122):c.1936T>C (p.Trp646Arg)
NM_052989.3(IFT122):c.194-8_194-7del
NM_052989.3(IFT122):c.1964_1966del (p.Glu655del)
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
NM_052989.3(IFT122):c.2036_2037delinsAA (p.Ser679Lys)
NM_052989.3(IFT122):c.2051G>A (p.Arg684Lys)
NM_052989.3(IFT122):c.2053A>C (p.Lys685Gln)
NM_052989.3(IFT122):c.2059C>T (p.Arg687Trp)
NM_052989.3(IFT122):c.2074A>G (p.Asn692Asp)
NM_052989.3(IFT122):c.2079C>T (p.Asp693=)
NM_052989.3(IFT122):c.20G>C (p.Trp7Ser)
NM_052989.3(IFT122):c.211G>A (p.Gly71Arg)
NM_052989.3(IFT122):c.2164G>A (p.Ala722Thr)
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2182G>A (p.Asp728Asn)
NM_052989.3(IFT122):c.2191A>C (p.Met731Leu)
NM_052989.3(IFT122):c.2197G>C (p.Glu733Gln)
NM_052989.3(IFT122):c.2285A>G (p.Lys762Arg)
NM_052989.3(IFT122):c.2297_2299delinsTCA (p.Ala766_Ala767delinsValThr)
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
NM_052989.3(IFT122):c.2312A>G (p.Tyr771Cys)
NM_052989.3(IFT122):c.2368G>A (p.Val790Ile)
NM_052989.3(IFT122):c.2414G>A (p.Arg805His)
NM_052989.3(IFT122):c.2428C>G (p.Leu810Val)
NM_052989.3(IFT122):c.2434G>A (p.Ala812Thr)
NM_052989.3(IFT122):c.2441A>C (p.Tyr814Ser)
NM_052989.3(IFT122):c.2455G>C (p.Asp819His)
NM_052989.3(IFT122):c.2500C>T (p.Leu834Phe)
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2537G>T (p.Arg846Leu)
NM_052989.3(IFT122):c.2547G>A (p.Glu849=)
NM_052989.3(IFT122):c.2559G>A (p.Leu853=)
NM_052989.3(IFT122):c.2569C>G (p.His857Asp)
NM_052989.3(IFT122):c.257G>A (p.Gly86Asp)
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
NM_052989.3(IFT122):c.2663C>A (p.Ala888Asp)
NM_052989.3(IFT122):c.2669G>A (p.Arg890Gln)
NM_052989.3(IFT122):c.2716G>A (p.Val906Met)
NM_052989.3(IFT122):c.2727C>T (p.Ser909=)
NM_052989.3(IFT122):c.272C>T (p.Thr91Met)
NM_052989.3(IFT122):c.273-263T>G
NM_052989.3(IFT122):c.273-274G>A
NM_052989.3(IFT122):c.273-283A>G
NM_052989.3(IFT122):c.273-313G>C
NM_052989.3(IFT122):c.273-339_273-337del
NM_052989.3(IFT122):c.273-342A>G
NM_052989.3(IFT122):c.273-357C>G
NM_052989.3(IFT122):c.2780A>T (p.Asp927Val)
NM_052989.3(IFT122):c.278A>G (p.Asn93Ser)
NM_052989.3(IFT122):c.2792-14G>A
NM_052989.3(IFT122):c.2792-5A>T
NM_052989.3(IFT122):c.2803_2805del (p.Lys935del) rs746556063
NM_052989.3(IFT122):c.2807A>C (p.Asp936Ala)
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
NM_052989.3(IFT122):c.2839C>T (p.Arg947Cys)
NM_052989.3(IFT122):c.2866C>T (p.His956Tyr)
NM_052989.3(IFT122):c.2885C>A (p.Thr962Lys)
NM_052989.3(IFT122):c.2885C>T (p.Thr962Met)
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
NM_052989.3(IFT122):c.2899A>G (p.Ser967Gly)
NM_052989.3(IFT122):c.2909G>T (p.Arg970Leu)
NM_052989.3(IFT122):c.2921T>C (p.Leu974Pro)
NM_052989.3(IFT122):c.2956C>T (p.Pro986Ser)
NM_052989.3(IFT122):c.2999T>A (p.Phe1000Tyr)
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
NM_052989.3(IFT122):c.3028G>A (p.Gly1010Ser)
NM_052989.3(IFT122):c.3055T>C (p.Tyr1019His)
NM_052989.3(IFT122):c.3079A>C (p.Ile1027Leu)
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3153+16C>T
NM_052989.3(IFT122):c.3154-17C>A
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
NM_052989.3(IFT122):c.3176G>A (p.Arg1059His)
NM_052989.3(IFT122):c.3213C>T (p.Gly1071=)
NM_052989.3(IFT122):c.3233G>A (p.Arg1078His)
NM_052989.3(IFT122):c.3249C>A (p.Phe1083Leu)
NM_052989.3(IFT122):c.3278T>G (p.Leu1093Arg)
NM_052989.3(IFT122):c.329C>G (p.Ser110Cys)
NM_052989.3(IFT122):c.3301G>A (p.Gly1101Arg)
NM_052989.3(IFT122):c.3302G>C (p.Gly1101Ala)
NM_052989.3(IFT122):c.3307A>G (p.Thr1103Ala)
NM_052989.3(IFT122):c.3358C>T (p.Arg1120Trp)
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
NM_052989.3(IFT122):c.3391+7A>T
NM_052989.3(IFT122):c.3407G>A (p.Arg1136Gln)
NM_052989.3(IFT122):c.3450C>T (p.Phe1150=)
NM_052989.3(IFT122):c.3471+9G>A
NM_052989.3(IFT122):c.3472-5T>A
NM_052989.3(IFT122):c.3489C>G (p.Phe1163Leu)
NM_052989.3(IFT122):c.350-5dup
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
NM_052989.3(IFT122):c.3508C>T (p.Arg1170Trp)
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
NM_052989.3(IFT122):c.3586C>G (p.Arg1196Gly)
NM_052989.3(IFT122):c.3623C>T (p.Pro1208Leu)
NM_052989.3(IFT122):c.3628T>G (p.Cys1210Gly)
NM_052989.3(IFT122):c.3656A>G (p.Tyr1219Cys)
NM_052989.3(IFT122):c.3664C>T (p.Leu1222=)
NM_052989.3(IFT122):c.3676C>G (p.His1226Asp)
NM_052989.3(IFT122):c.3679G>T (p.Gly1227Cys)
NM_052989.3(IFT122):c.3692A>C (p.Tyr1231Ser)
NM_052989.3(IFT122):c.3709G>A (p.Asp1237Asn)
NM_052989.3(IFT122):c.416+5G>A
NM_052989.3(IFT122):c.428A>G (p.Asp143Gly)
NM_052989.3(IFT122):c.456C>G (p.Phe152Leu)
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
NM_052989.3(IFT122):c.489C>T (p.Gly163=)
NM_052989.3(IFT122):c.497A>G (p.Lys166Arg)
NM_052989.3(IFT122):c.503A>G (p.Lys168Arg)
NM_052989.3(IFT122):c.52A>G (p.Ile18Val)
NM_052989.3(IFT122):c.555C>T (p.Asn185=)
NM_052989.3(IFT122):c.564-2A>G
NM_052989.3(IFT122):c.564-3C>T
NM_052989.3(IFT122):c.564-7T>A
NM_052989.3(IFT122):c.567A>G (p.Arg189=)
NM_052989.3(IFT122):c.579C>G (p.Phe193Leu)
NM_052989.3(IFT122):c.682A>G (p.Ser228Gly)
NM_052989.3(IFT122):c.688G>A (p.Ala230Thr)
NM_052989.3(IFT122):c.722G>T (p.Ser241Ile)
NM_052989.3(IFT122):c.740+6T>A
NM_052989.3(IFT122):c.784A>G (p.Lys262Glu)
NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
NM_052989.3(IFT122):c.791C>T (p.Ser264Phe)
NM_052989.3(IFT122):c.797A>G (p.Tyr266Cys)
NM_052989.3(IFT122):c.816+17A>G
NM_052989.3(IFT122):c.830G>A (p.Arg277Gln)
NM_052989.3(IFT122):c.888G>T (p.Leu296Phe)
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)

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