ClinVar Miner

List of variants studied for cleft lip/palate

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 172
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_001202.6(BMP4):c.*88C>T rs74054236 0.04584
NM_001202.6(BMP4):c.-146T>C rs73267467 0.01302
NM_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
NM_002448.3(MSX1):c.218C>T (p.Pro73Leu) rs201156596 0.00425
NM_001202.6(BMP4):c.*28A>T rs185647938 0.00213
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_003352.8(SUMO1):c.*776A>T rs72923015 0.00156
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768 0.00082
NM_003352.8(SUMO1):c.*884A>G rs555380378 0.00070
NM_003352.8(SUMO1):c.-32T>G rs182338962 0.00062
NM_001202.6(BMP4):c.345C>T (p.Asn115=) rs143687498 0.00050
NM_001202.6(BMP4):c.-155G>A rs540859284 0.00044
NM_001202.6(BMP4):c.*143A>T rs750395429 0.00042
NM_138281.3(DLX4):c.204C>T (p.Ser68=) rs200579401 0.00041
NM_003352.8(SUMO1):c.*944G>C rs537401465 0.00028
NM_001202.6(BMP4):c.124G>C (p.Ala42Pro) rs140920120 0.00026
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp) rs140590144 0.00025
NM_001202.6(BMP4):c.*251C>T rs573118445 0.00021
NM_003352.8(SUMO1):c.*475A>G rs754482827 0.00020
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) rs121912767 0.00018
NM_001202.6(BMP4):c.*131A>T rs76149166 0.00015
NM_001202.6(BMP4):c.362A>G (p.His121Arg) rs376960358 0.00015
NM_001202.6(BMP4):c.673A>G (p.Thr225Ala) rs144556455 0.00014
NM_001202.6(BMP4):c.394A>G (p.Thr132Ala) rs199935719 0.00012
NM_001202.6(BMP4):c.668G>A (p.Arg223His) rs766285160 0.00012
NM_001202.6(BMP4):c.806G>A (p.Arg269Gln) rs534215890 0.00009
NM_001202.6(BMP4):c.-329T>C rs956749737 0.00008
NM_001202.6(BMP4):c.898C>T (p.Arg300Trp) rs182373336 0.00008
NM_001202.6(BMP4):c.502G>C (p.Gly168Arg) rs373924774 0.00007
NM_001202.6(BMP4):c.-251C>G rs1023300708 0.00005
NM_001202.6(BMP4):c.1085A>G (p.Asn362Ser) rs546306238 0.00004
NM_001202.6(BMP4):c.252G>A (p.Arg84=) rs781435238 0.00004
NM_001202.6(BMP4):c.305C>T (p.Thr102Ile) rs371239780 0.00004
NM_001202.6(BMP4):c.485G>A (p.Arg162Gln) rs770493925 0.00004
NM_001202.6(BMP4):c.677G>A (p.Arg226Gln) rs538330477 0.00004
NM_001202.6(BMP4):c.751C>T (p.His251Tyr) rs200671094 0.00004
NM_001202.6(BMP4):c.863G>A (p.Arg288Gln) rs370847935 0.00004
NM_003352.8(SUMO1):c.-83A>G rs535659845 0.00004
NM_003352.8(SUMO1):c.88-8C>T rs778978037 0.00004
NM_001202.6(BMP4):c.*272A>G rs568281464 0.00003
NM_001202.6(BMP4):c.-342G>A rs778139957 0.00003
NM_001202.6(BMP4):c.450C>T (p.Asn150=) rs767216159 0.00003
NM_001202.6(BMP4):c.475C>T (p.Arg159Trp) rs774455359 0.00003
NM_001202.6(BMP4):c.753T>C (p.His251=) rs1460775726 0.00003
NM_001202.6(BMP4):c.93G>C (p.Gly31=) rs375563326 0.00003
NM_002448.3(MSX1):c.458C>A (p.Pro153Gln) rs104893854 0.00003
NM_003352.8(SUMO1):c.*545G>T rs747664973 0.00003
NM_001202.6(BMP4):c.1032A>G (p.Pro344=) rs1191198347 0.00002
NM_001202.6(BMP4):c.1223G>A (p.Arg408His) rs750868626 0.00002
NM_001202.6(BMP4):c.935C>T (p.Ser312Leu) rs778093557 0.00002
NM_003352.8(SUMO1):c.-94G>A rs554078545 0.00002
NM_001202.6(BMP4):c.*31T>A rs374037026 0.00001
NM_001202.6(BMP4):c.1179A>G (p.Val393=) rs1375945940 0.00001
NM_001202.6(BMP4):c.118G>A (p.Gly40Ser) rs749083527 0.00001
NM_001202.6(BMP4):c.17G>A (p.Arg6Gln) rs377379589 0.00001
NM_001202.6(BMP4):c.215A>G (p.Gln72Arg) rs771047931 0.00001
NM_001202.6(BMP4):c.224A>G (p.Lys75Arg) rs777501416 0.00001
NM_001202.6(BMP4):c.315G>A (p.Glu105=) rs774069849 0.00001
NM_001202.6(BMP4):c.348C>T (p.Thr116=) rs909451835 0.00001
NM_001202.6(BMP4):c.351G>A (p.Val117=) rs967937256 0.00001
NM_001202.6(BMP4):c.357C>T (p.Ser119=) rs757681410 0.00001
NM_001202.6(BMP4):c.481T>C (p.Phe161Leu) rs749431429 0.00001
NM_001202.6(BMP4):c.624T>C (p.Asn208=) rs770637496 0.00001
NM_002448.3(MSX1):c.251A>T (p.Glu84Val) rs28928890 0.00001
NM_003352.8(SUMO1):c.*724A>G rs886055457 0.00001
NM_003352.8(SUMO1):c.*814G>A rs753364030 0.00001
46,XX,t(2;8)(q33.1;q24.3)
NC_000014.8:g.(?_54416336)_54418690del
NC_000014.8:g.(?_54416750)_(55369403_?)del
NM_001202.6(BMP4):c.*149G>A rs74495140
NM_001202.6(BMP4):c.*254A>T rs1895269405
NM_001202.6(BMP4):c.*35C>G rs886050540
NM_001202.6(BMP4):c.-7-159T>G rs35107139
NM_001202.6(BMP4):c.-7-163C>G rs10130587
NM_001202.6(BMP4):c.1037C>T (p.Ala346Val) rs121912766
NM_001202.6(BMP4):c.1042C>T (p.His348Tyr)
NM_001202.6(BMP4):c.1076C>T (p.Thr359Ile)
NM_001202.6(BMP4):c.1209G>A (p.Glu403=)
NM_001202.6(BMP4):c.123C>T (p.His41=)
NM_001202.6(BMP4):c.153T>G (p.His51Gln) rs950786038
NM_001202.6(BMP4):c.159C>T (p.Leu53=) rs1337409637
NM_001202.6(BMP4):c.163C>T (p.Arg55Trp)
NM_001202.6(BMP4):c.168C>A (p.Asp56Glu)
NM_001202.6(BMP4):c.169T>C (p.Phe57Leu)
NM_001202.6(BMP4):c.171C>G (p.Phe57Leu)
NM_001202.6(BMP4):c.180A>G (p.Thr60=)
NM_001202.6(BMP4):c.184C>G (p.Leu62Val) rs2140238102
NM_001202.6(BMP4):c.200T>A (p.Leu67Gln) rs2140238068
NM_001202.6(BMP4):c.205_214del (p.Arg69fs) rs2140238013
NM_001202.6(BMP4):c.213G>T (p.Pro71=)
NM_001202.6(BMP4):c.220A>G (p.Ser74Gly) rs1006741808
NM_001202.6(BMP4):c.231C>T (p.Ala77=)
NM_001202.6(BMP4):c.240G>T (p.Pro80=) rs747861439
NM_001202.6(BMP4):c.250C>T (p.Arg84Trp)
NM_001202.6(BMP4):c.251G>A (p.Arg84Gln)
NM_001202.6(BMP4):c.262C>T (p.Arg88Trp)
NM_001202.6(BMP4):c.280G>A (p.Glu94Lys)
NM_001202.6(BMP4):c.288A>G (p.Glu96=) rs886050541
NM_001202.6(BMP4):c.291G>A (p.Glu97=) rs1426072881
NM_001202.6(BMP4):c.293A>G (p.Gln98Arg)
NM_001202.6(BMP4):c.295A>G (p.Ile99Val) rs1417794324
NM_001202.6(BMP4):c.348C>G (p.Thr116=)
NM_001202.6(BMP4):c.361C>T (p.His121Tyr) rs754308298
NM_001202.6(BMP4):c.370+12C>T rs368426865
NM_001202.6(BMP4):c.370+160C>T rs2071047
NM_001202.6(BMP4):c.370+19T>C
NM_001202.6(BMP4):c.383A>G (p.Asn128Ser)
NM_001202.6(BMP4):c.394A>T (p.Thr132Ser)
NM_001202.6(BMP4):c.416G>A (p.Arg139His)
NM_001202.6(BMP4):c.416G>T (p.Arg139Leu)
NM_001202.6(BMP4):c.426T>A (p.Phe142Leu) rs1895364575
NM_001202.6(BMP4):c.430C>G (p.Leu144Val)
NM_001202.6(BMP4):c.436A>G (p.Ser146Gly) rs1819759617
NM_001202.6(BMP4):c.442C>T (p.Pro148Ser)
NM_001202.6(BMP4):c.451G>A (p.Glu151Lys)
NM_001202.6(BMP4):c.461C>T (p.Ser154Phe)
NM_001202.6(BMP4):c.476G>A (p.Arg159Gln)
NM_001202.6(BMP4):c.484C>T (p.Arg162Trp)
NM_001202.6(BMP4):c.510T>C (p.Asp170=) rs747360940
NM_001202.6(BMP4):c.519G>A (p.Arg173=)
NM_001202.6(BMP4):c.521G>A (p.Gly174Asp)
NM_001202.6(BMP4):c.530G>A (p.Arg177His)
NM_001202.6(BMP4):c.560C>T (p.Pro187Leu)
NM_001202.6(BMP4):c.568G>A (p.Val190Met) rs759277724
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter) rs387906597
NM_001202.6(BMP4):c.605C>T (p.Thr202Met)
NM_001202.6(BMP4):c.615C>A (p.Val205=)
NM_001202.6(BMP4):c.632G>A (p.Arg211Gln)
NM_001202.6(BMP4):c.63G>A (p.Ala21=)
NM_001202.6(BMP4):c.63G>C (p.Ala21=)
NM_001202.6(BMP4):c.667C>T (p.Arg223Cys)
NM_001202.6(BMP4):c.671G>A (p.Trp224Ter)
NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)
NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)
NM_001202.6(BMP4):c.762T>C (p.Ile254=)
NM_001202.6(BMP4):c.764G>A (p.Ser255Asn)
NM_001202.6(BMP4):c.810C>A (p.Pro270=)
NM_001202.6(BMP4):c.813C>T (p.Leu271=)
NM_001202.6(BMP4):c.817G>C (p.Val273Leu)
NM_001202.6(BMP4):c.838C>T (p.Arg280Trp)
NM_001202.6(BMP4):c.839G>A (p.Arg280Gln)
NM_001202.6(BMP4):c.857G>A (p.Arg286Gln) rs550226363
NM_001202.6(BMP4):c.859C>T (p.Arg287Cys)
NM_001202.6(BMP4):c.862C>T (p.Arg288Trp)
NM_001202.6(BMP4):c.865_879delinsGT (p.Arg289fs) rs1895318709
NM_001202.6(BMP4):c.89C>T (p.Thr30Met)
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys) rs770777693
NM_001202.6(BMP4):c.954C>T (p.Ser318=)
NM_001202.6(BMP4):c.979G>A (p.Val327Met) rs1159448000
NM_001202.6(BMP4):c.979G>T (p.Val327Leu)
NM_002448.3(MSX1):c.365G>A (p.Gly122Glu) rs28933081
NM_002448.3(MSX1):c.471G>T (p.Arg157Ser) rs150284621
NM_002448.3(MSX1):c.519_525dup (p.Arg176Ter) rs2108778592
NM_003352.8(SUMO1):c.*1038C>T rs1692651255
NM_003352.8(SUMO1):c.*753C>G rs1035640561
NM_003352.8(SUMO1):c.-48C>T rs976294034
NM_004360.5(CDH1):c.1926C>A (p.Tyr642Ter) rs1961172043
NM_004360.5(CDH1):c.895G>A (p.Ala299Thr) rs1960837744
NM_006147.4(IRF6):c.1173G>T (p.Leu391Phe) rs141653312
NM_006147.4(IRF6):c.1175T>G (p.Val392Gly) rs1553247688
NM_006147.4(IRF6):c.273A>T (p.Arg91Ser) rs1553248262
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.514C>T (p.Pro172Ser) rs1553247899
NM_006147.4(IRF6):c.595G>A (p.Glu199Lys) rs1553247888
NM_006147.4(IRF6):c.635G>A (p.Ser212Asn) rs1553247880
NM_138281.3(DLX4):c.546del (p.Gln183fs) rs869025279

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