ClinVar Miner

List of variants in gene SNAP29 reported as benign for CEDNIK syndrome

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004782.4(SNAP29):c.*2816A>G rs165739 0.84087
NM_004782.4(SNAP29):c.*1563T>G rs11577 0.49742
NM_004782.4(SNAP29):c.*420A>G rs178077 0.38814
NM_004782.4(SNAP29):c.*2961T>C rs165715 0.38730
NM_004782.4(SNAP29):c.*1129T>C rs165801 0.38697
NM_004782.4(SNAP29):c.*1519T>C rs165861 0.37966
NM_004782.4(SNAP29):c.*123G>C rs3171741 0.06922
NM_004782.4(SNAP29):c.*2105T>G rs5752201 0.06920
NM_004782.4(SNAP29):c.*1490T>C rs12168260 0.04739
NM_004782.4(SNAP29):c.*2856G>A rs9625044 0.04630
NM_004782.4(SNAP29):c.*521T>A rs361998 0.04056
NM_004782.4(SNAP29):c.*2795C>T rs9625042 0.03210
NM_004782.4(SNAP29):c.*740C>T rs79383799 0.02894
NM_004782.4(SNAP29):c.*3015G>A rs145199625 0.02873
NM_004782.4(SNAP29):c.*2551G>A rs73162856 0.01926
NM_004782.4(SNAP29):c.-5G>A rs139884576 0.01122
NM_004782.4(SNAP29):c.-8C>G rs186825747 0.01122
NM_004782.4(SNAP29):c.*2872G>A rs111581119 0.01120
NM_004782.4(SNAP29):c.*2791T>C rs187911143 0.01095
NM_004782.4(SNAP29):c.*2783C>T rs142566638 0.01086
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_004782.4(SNAP29):c.*2892C>T rs546755935 0.00592
NM_004782.4(SNAP29):c.*2879C>T rs140626919 0.00548
NM_004782.4(SNAP29):c.*2692C>T rs148419415 0.00545
NM_004782.4(SNAP29):c.-68A>T rs117593372 0.00529
NM_004782.4(SNAP29):c.*138C>T rs375995790 0.00422
NM_004782.4(SNAP29):c.72T>A (p.Pro24=) rs149837436 0.00342
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863 0.00044
NM_004782.4(SNAP29):c.*2261G>T rs165744
NM_004782.4(SNAP29):c.*2796G>A rs562935601
NM_004782.4(SNAP29):c.*755A>G rs116984278
NM_004782.4(SNAP29):c.-32C>G rs202138036
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729

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