ClinVar Miner

List of variants reported as benign for orofacial cleft

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.119639934A>C rs7940667 0.86377
NM_003722.5(TP63):c.-58A>T rs28673064 0.45321
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
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_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
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.176-13C>A rs55760411 0.00447
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.228T>A (p.Ser76Arg) rs114957446 0.00211
NM_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266 0.00205
NM_001202.6(BMP4):c.*148A>T rs76335800 0.00184
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768 0.00082
NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser) rs137991779 0.00077
NM_001202.6(BMP4):c.345C>T (p.Asn115=) rs143687498 0.00050
NM_001202.6(BMP4):c.450C>T (p.Asn150=) rs767216159 0.00003
NM_001109878.2(TBX22):c.-2-7C>G rs185298778
NM_001202.6(BMP4):c.-7-159T>G rs35107139
NM_001202.6(BMP4):c.-7-163C>G rs10130587
NM_001202.6(BMP4):c.213G>T (p.Pro71=)
NM_001202.6(BMP4):c.370+160C>T rs2071047
NM_002855.5(NECTIN1):c.1310AGG[9] (p.Glu444dup) rs137909701
NM_006147.4(IRF6):c.1173G>T (p.Leu391Phe) rs141653312
NM_006147.4(IRF6):c.362G>T (p.Gly121Val) rs1553248247
NM_006147.4(IRF6):c.443A>G (p.Asp148Gly) rs1553248182
NM_006147.4(IRF6):c.457T>G (p.Ser153Ala) rs1553248180
NM_006147.4(IRF6):c.490C>G (p.Pro164Ala) rs1033149441
NM_006147.4(IRF6):c.635G>A (p.Ser212Asn) rs1553247880

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