ClinVar Miner

List of variants studied for craniolenticulosutural dysplasia by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_006364.4(SEC23A):c.1668A>G (p.Lys556=) rs11556216 0.27106
NM_006364.4(SEC23A):c.927T>C (p.Pro309=) rs17108797 0.04778
NM_006364.4(SEC23A):c.1092C>T (p.Pro364=) rs77375580 0.00664
NM_006364.4(SEC23A):c.2142+3_2142+4dup rs532535708 0.00197
NM_006364.4(SEC23A):c.1900-10T>C rs189849576 0.00144
NM_006364.4(SEC23A):c.500T>C (p.Ile167Thr) rs144765020 0.00086
NM_006364.4(SEC23A):c.1047G>A (p.Ala349=) rs143126019 0.00054
NM_006364.4(SEC23A):c.2104A>G (p.Met702Val) rs138568622 0.00034
NM_006364.4(SEC23A):c.612G>A (p.Leu204=) rs143358320 0.00034
NM_006364.4(SEC23A):c.1906C>T (p.Leu636Phe) rs144656181 0.00013
NM_006364.4(SEC23A):c.1875G>A (p.Ala625=) rs751758051 0.00011
NM_006364.4(SEC23A):c.2038A>G (p.Asn680Asp) rs200050093 0.00010
NM_006364.4(SEC23A):c.255C>T (p.Cys85=) rs776974292 0.00004
NM_006364.4(SEC23A):c.507T>C (p.Phe169=) rs754596322 0.00002
NM_006364.4(SEC23A):c.1460A>G (p.His487Arg) rs770112771 0.00001
NM_006364.4(SEC23A):c.1495A>G (p.Ile499Val) rs767175510 0.00001
NM_006364.4(SEC23A):c.1626G>A (p.Val542=) rs1288174701 0.00001
NM_006364.4(SEC23A):c.1864A>G (p.Ile622Val) rs767767591 0.00001
NM_006364.4(SEC23A):c.2154C>T (p.Leu718=) rs758424981 0.00001
NM_006364.4(SEC23A):c.2166C>T (p.Val722=) rs750386277 0.00001
NM_006364.4(SEC23A):c.2208+6T>A rs1421920689 0.00001
NM_006364.4(SEC23A):c.360A>C (p.Val120=) rs376431559 0.00001
NM_006364.4(SEC23A):c.903G>A (p.Val301=) rs1254693441 0.00001
NM_006364.4(SEC23A):c.995A>G (p.Glu332Gly) rs749846887 0.00001
NM_006364.4(SEC23A):c.115G>A (p.Ala39Thr) rs2139298560
NM_006364.4(SEC23A):c.1215G>A (p.Thr405=) rs140246467
NM_006364.4(SEC23A):c.1228-8T>C
NM_006364.4(SEC23A):c.1274C>G (p.Ser425Ter)
NM_006364.4(SEC23A):c.1293C>T (p.Pro431=) rs2139232007
NM_006364.4(SEC23A):c.1294T>C (p.Cys432Arg) rs1886605183
NM_006364.4(SEC23A):c.129A>C (p.Thr43=) rs1182101092
NM_006364.4(SEC23A):c.1308+18T>A rs2139231944
NM_006364.4(SEC23A):c.1349_1350inv (p.Gly450Val)
NM_006364.4(SEC23A):c.1427G>A (p.Arg476His)
NM_006364.4(SEC23A):c.1458G>A (p.Gln486=)
NM_006364.4(SEC23A):c.147_155del (p.Asp50_Pro52del) rs1887873306
NM_006364.4(SEC23A):c.1483C>T (p.Arg495Ter)
NM_006364.4(SEC23A):c.1504A>C (p.Asn502His)
NM_006364.4(SEC23A):c.1694del (p.Pro565fs)
NM_006364.4(SEC23A):c.1718C>A (p.Thr573Asn) rs2139199749
NM_006364.4(SEC23A):c.1737+20A>G rs1885932388
NM_006364.4(SEC23A):c.175G>A (p.Val59Ile) rs1887872116
NM_006364.4(SEC23A):c.1784A>G (p.Asn595Ser)
NM_006364.4(SEC23A):c.178_179del (p.Leu60fs) rs2139298318
NM_006364.4(SEC23A):c.1900-6C>T
NM_006364.4(SEC23A):c.1987-15T>C
NM_006364.4(SEC23A):c.2208+20C>T
NM_006364.4(SEC23A):c.2209-13dup rs11418467
NM_006364.4(SEC23A):c.222-16dup rs5808022
NM_006364.4(SEC23A):c.222-17C>G
NM_006364.4(SEC23A):c.222-17_222-13del
NM_006364.4(SEC23A):c.222-8T>A
NM_006364.4(SEC23A):c.2261del (p.Asp754fs)
NM_006364.4(SEC23A):c.227T>C (p.Val76Ala)
NM_006364.4(SEC23A):c.281T>C (p.Phe94Ser)
NM_006364.4(SEC23A):c.284C>T (p.Pro95Leu)
NM_006364.4(SEC23A):c.371G>T (p.Gly124Val)
NM_006364.4(SEC23A):c.478C>T (p.Pro160Ser) rs1887666757
NM_006364.4(SEC23A):c.481A>G (p.Thr161Ala)
NM_006364.4(SEC23A):c.487T>G (p.Leu163Val) rs777434049
NM_006364.4(SEC23A):c.489G>C (p.Leu163Phe)
NM_006364.4(SEC23A):c.516G>C (p.Met172Ile)
NM_006364.4(SEC23A):c.519T>G (p.Val173=)
NM_006364.4(SEC23A):c.539G>A (p.Cys180Tyr)
NM_006364.4(SEC23A):c.545G>A (p.Gly182Asp) rs765405316
NM_006364.4(SEC23A):c.579A>G (p.Lys193=) rs774323212
NM_006364.4(SEC23A):c.604-8C>G
NM_006364.4(SEC23A):c.629C>T (p.Pro210Leu)
NM_006364.4(SEC23A):c.631C>A (p.Leu211Ile) rs8018720
NM_006364.4(SEC23A):c.631C>G (p.Leu211Val) rs8018720
NM_006364.4(SEC23A):c.661C>G (p.Gln221Glu)
NM_006364.4(SEC23A):c.674C>T (p.Pro225Leu)
NM_006364.4(SEC23A):c.745C>G (p.Arg249Gly)
NM_006364.4(SEC23A):c.804T>C (p.Leu268=) rs549066823
NM_006364.4(SEC23A):c.808A>G (p.Ile270Val)
NM_006364.4(SEC23A):c.829-11T>C
NM_006364.4(SEC23A):c.82C>T (p.Arg28Ter)
NM_006364.4(SEC23A):c.877C>G (p.Pro293Ala)
NM_006364.4(SEC23A):c.948T>C (p.Ile316=)

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