ClinVar Miner

List of variants reported as uncertain significance for Microphthalmia with brain and digit anomalies; Orofacial cleft 11 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 77
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HGVS dbSNP gnomAD frequency
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.673A>G (p.Thr225Ala) rs144556455 0.00014
NM_001202.6(BMP4):c.668G>A (p.Arg223His) rs766285160 0.00012
NM_001202.6(BMP4):c.898C>T (p.Arg300Trp) rs182373336 0.00008
NM_001202.6(BMP4):c.1085A>G (p.Asn362Ser) rs546306238 0.00004
NM_001202.6(BMP4):c.677G>A (p.Arg226Gln) rs538330477 0.00004
NM_001202.6(BMP4):c.863G>A (p.Arg288Gln) rs370847935 0.00004
NM_001202.6(BMP4):c.475C>T (p.Arg159Trp) rs774455359 0.00003
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_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.224A>G (p.Lys75Arg) rs777501416 0.00001
NM_001202.6(BMP4):c.304A>G (p.Thr102Ala) rs202159001 0.00001
NM_001202.6(BMP4):c.481T>C (p.Phe161Leu) rs749431429 0.00001
NM_001202.6(BMP4):c.1000G>A (p.Ala334Thr)
NM_001202.6(BMP4):c.1042C>T (p.His348Tyr)
NM_001202.6(BMP4):c.1076C>T (p.Thr359Ile)
NM_001202.6(BMP4):c.1189T>A (p.Tyr397Asn)
NM_001202.6(BMP4):c.153T>G (p.His51Gln) rs950786038
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.171C>G (p.Phe57Leu)
NM_001202.6(BMP4):c.200T>A (p.Leu67Gln) rs2140238068
NM_001202.6(BMP4):c.220A>G (p.Ser74Gly) rs1006741808
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.348C>G (p.Thr116=)
NM_001202.6(BMP4):c.361C>T (p.His121Tyr) rs754308298
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.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.484C>T (p.Arg162Trp)
NM_001202.6(BMP4):c.521G>A (p.Gly174Asp)
NM_001202.6(BMP4):c.530G>A (p.Arg177His)
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.605C>T (p.Thr202Met)
NM_001202.6(BMP4):c.632G>A (p.Arg211Gln)
NM_001202.6(BMP4):c.667C>T (p.Arg223Cys)
NM_001202.6(BMP4):c.671G>A (p.Trp224Ter)
NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)
NM_001202.6(BMP4):c.739C>G (p.His247Asp)
NM_001202.6(BMP4):c.764G>A (p.Ser255Asn)
NM_001202.6(BMP4):c.770C>T (p.Ser257Leu)
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.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.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.928C>T (p.Arg310Cys) rs770777693
NM_001202.6(BMP4):c.979G>A (p.Val327Met) rs1159448000
NM_001202.6(BMP4):c.979G>T (p.Val327Leu)

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