ClinVar Miner

List of variants studied for Cranioectodermal dysplasia 1 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_052985.3(IFT122):c.-206A>G rs3138334 0.02635
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_052985.3(IFT122):c.-210C>A rs148987764 0.00690
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00184
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
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.1553G>A (p.Arg518His) rs138223055 0.00034
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829 0.00024
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
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.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_052989.3(IFT122):c.-3G>A rs367704478 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) rs139079256 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His) rs576743578 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.783G>A (p.Gln261=) rs144727222 0.00006
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.54C>T (p.Ile18=) rs139138308 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_052985.3(IFT122):c.-145T>A rs923805618 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-260T>C rs369997431 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser) rs754782458 0.00004
NM_052989.3(IFT122):c.*16C>T rs763993447 0.00003
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr) rs376362722 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 0.00003
NM_052989.3(IFT122):c.2393G>A (p.Arg798His) rs755677495 0.00002
NM_052989.3(IFT122):c.3154-9G>A rs759975764 0.00002
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=) rs775568842 0.00002
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn) rs779236550 0.00001
NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys) rs1332128088 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.3446C>T (p.Pro1149Leu) rs373326394 0.00001
NM_052989.3(IFT122):c.*121G>T rs536919948
NM_052989.3(IFT122):c.*142C>G rs977256057
NM_052989.3(IFT122):c.*241C>G rs2084614746
NM_052989.3(IFT122):c.-22C>A rs551140180
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr) rs2078655875
NM_052989.3(IFT122):c.1800C>T (p.Ser600=) rs886057965
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn) rs777051654
NM_052989.3(IFT122):c.199C>A (p.Arg67Ser) rs181971625
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2304G>A (p.Val768=) rs886057966
NM_052989.3(IFT122):c.2523C>T (p.His841=) rs780586191
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln) rs2081966365
NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp) rs747843863
NM_052989.3(IFT122):c.2881C>G (p.His961Asp) rs1178500227
NM_052989.3(IFT122):c.3049C>A (p.His1017Asn) rs900548596
NM_052989.3(IFT122):c.3391+6C>T rs2084139065
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro) rs1251905610
NM_052989.3(IFT122):c.3636+3A>G rs753825998
NM_052989.3(IFT122):c.3711T>C (p.Asp1237=) rs2084594582
NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer) rs781766922

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