ClinVar Miner

List of variants reported as likely benign for craniolenticulosutural dysplasia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_006364.4(SEC23A):c.2142+3_2142+4dup rs532535708 0.00197
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.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.255C>T (p.Cys85=) rs776974292 0.00004
NM_006364.4(SEC23A):c.507T>C (p.Phe169=) rs754596322 0.00002
NM_006364.4(SEC23A):c.1626G>A (p.Val542=) rs1288174701 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.360A>C (p.Val120=) rs376431559 0.00001
NM_006364.4(SEC23A):c.903G>A (p.Val301=) rs1254693441 0.00001
NM_006364.4(SEC23A):c.1215G>A (p.Thr405=) rs140246467
NM_006364.4(SEC23A):c.1228-8T>C
NM_006364.4(SEC23A):c.1293C>T (p.Pro431=) rs2139232007
NM_006364.4(SEC23A):c.129A>C (p.Thr43=) rs1182101092
NM_006364.4(SEC23A):c.1308+18T>A rs2139231944
NM_006364.4(SEC23A):c.1458G>A (p.Gln486=)
NM_006364.4(SEC23A):c.1737+20A>G rs1885932388
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.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.519T>G (p.Val173=)
NM_006364.4(SEC23A):c.579A>G (p.Lys193=) rs774323212
NM_006364.4(SEC23A):c.604-8C>G
NM_006364.4(SEC23A):c.804T>C (p.Leu268=) rs549066823
NM_006364.4(SEC23A):c.829-11T>C
NM_006364.4(SEC23A):c.948T>C (p.Ile316=)

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