ClinVar Miner

List of variants studied for microphthalmia with brain and digit anomalies

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_001202.6(BMP4):c.-132-117A>G rs2761881 0.95939
NM_001202.6(BMP4):c.-7-39A>G rs2761880 0.83539
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_001202.6(BMP4):c.-8+29C>T rs2855532 0.40039
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_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_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768 0.00082
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.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_001202.6(BMP4):c.272C>G (p.Ser91Cys) rs121912767 0.00018
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.898C>T (p.Arg300Trp) rs182373336 0.00008
NM_001202.6(BMP4):c.502G>C (p.Gly168Arg) rs373924774 0.00007
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_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_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.4A>T (p.Ile2Phe) rs760019960 0.00002
NM_001202.6(BMP4):c.935C>T (p.Ser312Leu) rs778093557 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.278A>G (p.Glu93Gly) rs121912765 0.00001
NM_001202.6(BMP4):c.304A>G (p.Thr102Ala) rs202159001 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
NC_000014.8:g.(?_54416336)_54418690del
NC_000014.8:g.(?_54416750)_(55369403_?)del
NC_000014.9:g.(53815591_53825260)_(53983697_53984391)del
NM_001202.6(BMP4):c.*4C>G
NM_001202.6(BMP4):c.-7-159T>G rs35107139
NM_001202.6(BMP4):c.-7-163C>G rs10130587
NM_001202.6(BMP4):c.1000G>A (p.Ala334Thr)
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.1099A>C (p.Ser367Arg)
NM_001202.6(BMP4):c.111G>C (p.Glu37Asp)
NM_001202.6(BMP4):c.1126A>G (p.Thr376Ala)
NM_001202.6(BMP4):c.1189T>A (p.Tyr397Asn)
NM_001202.6(BMP4):c.1209G>A (p.Glu403=)
NM_001202.6(BMP4):c.123C>A (p.His41Gln)
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.164G>A (p.Arg55Gln)
NM_001202.6(BMP4):c.168C>A (p.Asp56Glu)
NM_001202.6(BMP4):c.168C>T (p.Asp56=)
NM_001202.6(BMP4):c.171C>G (p.Phe57Leu)
NM_001202.6(BMP4):c.171dup (p.Glu58fs) rs2140238150
NM_001202.6(BMP4):c.180A>G (p.Thr60=)
NM_001202.6(BMP4):c.184C>G (p.Leu62Val) rs2140238102
NM_001202.6(BMP4):c.190A>T (p.Met64Leu)
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.208C>T (p.Arg70Cys)
NM_001202.6(BMP4):c.213G>T (p.Pro71=)
NM_001202.6(BMP4):c.220A>G (p.Ser74Gly) rs1006741808
NM_001202.6(BMP4):c.222C>T (p.Ser74=)
NM_001202.6(BMP4):c.226_227del (p.Ser76fs) rs2140237954
NM_001202.6(BMP4):c.231C>T (p.Ala77=)
NM_001202.6(BMP4):c.239C>G (p.Pro80Arg)
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.293A>G (p.Gln98Arg)
NM_001202.6(BMP4):c.295A>G (p.Ile99Val) rs1417794324
NM_001202.6(BMP4):c.309T>C (p.Gly103=)
NM_001202.6(BMP4):c.329C>T (p.Pro110Leu)
NM_001202.6(BMP4):c.338G>A (p.Arg113Gln)
NM_001202.6(BMP4):c.348C>G (p.Thr116=)
NM_001202.6(BMP4):c.349G>T (p.Val117Leu)
NM_001202.6(BMP4):c.361C>T (p.His121Tyr) rs754308298
NM_001202.6(BMP4):c.370+12C>G
NM_001202.6(BMP4):c.370+160C>T rs2071047
NM_001202.6(BMP4):c.370+19T>C
NM_001202.6(BMP4):c.370+20C>T
NM_001202.6(BMP4):c.371-2A>G
NM_001202.6(BMP4):c.371-8G>A
NM_001202.6(BMP4):c.373C>G (p.His125Asp)
NM_001202.6(BMP4):c.383A>G (p.Asn128Ser)
NM_001202.6(BMP4):c.394A>T (p.Thr132Ser)
NM_001202.6(BMP4):c.407C>G (p.Ser136Cys)
NM_001202.6(BMP4):c.416G>A (p.Arg139His)
NM_001202.6(BMP4):c.416G>T (p.Arg139Leu)
NM_001202.6(BMP4):c.41G>A (p.Cys14Tyr)
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.450C>G (p.Asn150Lys) rs767216159
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.483C>T (p.Phe161=)
NM_001202.6(BMP4):c.484C>T (p.Arg162Trp)
NM_001202.6(BMP4):c.510T>C (p.Asp170=) rs747360940
NM_001202.6(BMP4):c.512G>A (p.Trp171Ter) rs1064796998
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.532A>G (p.Ile178Val)
NM_001202.6(BMP4):c.539_561del (p.Ile180fs)
NM_001202.6(BMP4):c.548T>C (p.Val183Ala)
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.602del (p.Asp201fs)
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.652A>C (p.Ser218Arg)
NM_001202.6(BMP4):c.654C>T (p.Ser218=)
NM_001202.6(BMP4):c.659C>T (p.Ala220Val)
NM_001202.6(BMP4):c.666T>C (p.Leu222=)
NM_001202.6(BMP4):c.667C>T (p.Arg223Cys)
NM_001202.6(BMP4):c.671G>A (p.Trp224Ter)
NM_001202.6(BMP4):c.673A>T (p.Thr225Ser)
NM_001202.6(BMP4):c.677G>T (p.Arg226Leu)
NM_001202.6(BMP4):c.691A>G (p.Asn231Asp)
NM_001202.6(BMP4):c.700C>A (p.Leu234Ile)
NM_001202.6(BMP4):c.709G>A (p.Glu237Lys)
NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)
NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)
NM_001202.6(BMP4):c.734G>A (p.Arg245Gln)
NM_001202.6(BMP4):c.739C>G (p.His247Asp)
NM_001202.6(BMP4):c.740A>C (p.His247Pro)
NM_001202.6(BMP4):c.762T>C (p.Ile254=)
NM_001202.6(BMP4):c.764G>A (p.Ser255Asn)
NM_001202.6(BMP4):c.770C>T (p.Ser257Leu)
NM_001202.6(BMP4):c.785G>A (p.Ser262Asn)
NM_001202.6(BMP4):c.791A>G (p.Asn264Ser)
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.830A>G (p.His277Arg)
NM_001202.6(BMP4):c.838C>T (p.Arg280Trp)
NM_001202.6(BMP4):c.839G>A (p.Arg280Gln)
NM_001202.6(BMP4):c.845A>T (p.His282Leu)
NM_001202.6(BMP4):c.854C>T (p.Thr285Ile)
NM_001202.6(BMP4):c.856C>T (p.Arg286Ter)
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.877A>G (p.Ser293Gly)
NM_001202.6(BMP4):c.88A>G (p.Thr30Ala)
NM_001202.6(BMP4):c.892T>G (p.Ser298Ala)
NM_001202.6(BMP4):c.89C>T (p.Thr30Met)
NM_001202.6(BMP4):c.901G>A (p.Ala301Thr)
NM_001202.6(BMP4):c.913A>T (p.Asn305Tyr)
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys) rs770777693
NM_001202.6(BMP4):c.954C>T (p.Ser318=)
NM_001202.6(BMP4):c.957T>C (p.Asp319=)
NM_001202.6(BMP4):c.979G>A (p.Val327Met) rs1159448000
NM_001202.6(BMP4):c.979G>T (p.Val327Leu)

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