ClinVar Miner

List of variants reported as benign for orofacial cleft by Illumina Laboratory Services, Illumina

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.-58A>T rs28673064 0.45321
NM_003722.5(TP63):c.*2345C>T rs35592567 0.20615
NM_002855.5(NECTIN1):c.*3301T>C rs11217380 0.13736
NM_001109878.2(TBX22):c.883T>C (p.Leu295=) rs195293 0.09932
NM_003722.5(TP63):c.*541G>A rs73199799 0.09298
NM_002855.5(NECTIN1):c.*2857A>C rs7944707 0.07251
NM_002855.5(NECTIN1):c.*727T>C rs11603655 0.06453
NM_003722.5(TP63):c.*45C>T rs34057105 0.05395
NM_003722.5(TP63):c.*2216G>A rs35861864 0.05107
NM_003722.5(TP63):c.*435C>T rs78233713 0.04622
NM_001202.6(BMP4):c.*88C>T rs74054236 0.04584
NM_001109878.2(TBX22):c.559G>A (p.Glu187Lys) rs34244923 0.04497
NM_003722.5(TP63):c.*638C>G rs6444406 0.02897
NM_001109878.2(TBX22):c.-103G>A rs73496511 0.02400
NM_002855.5(NECTIN1):c.*537C>T rs114119887 0.02390
NM_001109878.2(TBX22):c.949+12T>G rs151121450 0.01780
NM_003722.5(TP63):c.859C>T (p.Leu287=) rs33979049 0.01380
NM_001202.6(BMP4):c.-146T>C rs73267467 0.01302
NM_003722.5(TP63):c.*1386T>C rs35785527 0.00979
NM_001109878.2(TBX22):c.72C>T (p.Leu24=) rs138387312 0.00852
NM_001109878.2(TBX22):c.*6C>A rs137881052 0.00802
NM_001109878.2(TBX22):c.804G>A (p.Thr268=) rs150811689 0.00266
NM_001109878.2(TBX22):c.*347T>C rs142483621 0.00211
NM_001202.6(BMP4):c.*148A>T rs76335800 0.00184

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