ClinVar Miner

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

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ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
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.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
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.3266-19C>T rs201753855 0.00040
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.2625C>T (p.Asn875=) rs76572254 0.00036
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_052989.3(IFT122):c.417-16T>C rs192128912 0.00029
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) rs142641511 0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357 0.00021
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.3027C>T (p.Leu1009=) rs373152133 0.00015
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_052989.3(IFT122):c.2715C>T (p.Ala905=) rs143748879 0.00014
NM_052989.3(IFT122):c.2987+15A>G rs373111458 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 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.1489-16G>A rs576753615 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
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.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) rs775936679 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.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) rs771092154 0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=) rs140575442 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.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.2720C>T (p.Ala907Val) rs377690924 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.1148-1G>C rs755005244 0.00002
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.1629C>T (p.Ile543=) rs372545849 0.00002
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_052989.3(IFT122):c.2652G>A (p.Ala884=) rs201147770 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.3504G>C (p.Val1168=) rs368239028 0.00002
NM_052989.3(IFT122):c.42-17C>G rs752213678 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.2017C>T (p.Arg673Ter) rs1185183557 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.2299G>A (p.Ala767Thr) rs199856807 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.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2285del (p.Lys762fs) rs2081339145
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142

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