ClinVar Miner

List of variants reported as likely benign for Microphthalmia with brain and digit anomalies; Orofacial cleft 11

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Total variants: 46
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HGVS dbSNP gnomAD frequency
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.394A>G (p.Thr132Ala) rs199935719 0.00012
NM_001202.6(BMP4):c.806G>A (p.Arg269Gln) rs534215890 0.00009
NM_001202.6(BMP4):c.502G>C (p.Gly168Arg) rs373924774 0.00007
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.751C>T (p.His251Tyr) rs200671094 0.00004
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.1179A>G (p.Val393=) rs1375945940 0.00001
NM_001202.6(BMP4):c.215A>G (p.Gln72Arg) rs771047931 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.624T>C (p.Asn208=) rs770637496 0.00001
NM_001202.6(BMP4):c.*4C>G
NM_001202.6(BMP4):c.1099A>C (p.Ser367Arg)
NM_001202.6(BMP4):c.1209G>A (p.Glu403=)
NM_001202.6(BMP4):c.123C>T (p.His41=)
NM_001202.6(BMP4):c.159C>T (p.Leu53=) rs1337409637
NM_001202.6(BMP4):c.168C>T (p.Asp56=)
NM_001202.6(BMP4):c.180A>G (p.Thr60=)
NM_001202.6(BMP4):c.231C>T (p.Ala77=)
NM_001202.6(BMP4):c.240G>T (p.Pro80=) rs747861439
NM_001202.6(BMP4):c.309T>C (p.Gly103=)
NM_001202.6(BMP4):c.370+12C>G
NM_001202.6(BMP4):c.370+19T>C
NM_001202.6(BMP4):c.370+20C>T
NM_001202.6(BMP4):c.461C>T (p.Ser154Phe)
NM_001202.6(BMP4):c.483C>T (p.Phe161=)
NM_001202.6(BMP4):c.510T>C (p.Asp170=) rs747360940
NM_001202.6(BMP4):c.519G>A (p.Arg173=)
NM_001202.6(BMP4):c.615C>A (p.Val205=)
NM_001202.6(BMP4):c.63G>A (p.Ala21=)
NM_001202.6(BMP4):c.63G>C (p.Ala21=)
NM_001202.6(BMP4):c.666T>C (p.Leu222=)
NM_001202.6(BMP4):c.731C>T (p.Thr244Ile)
NM_001202.6(BMP4):c.762T>C (p.Ile254=)
NM_001202.6(BMP4):c.810C>A (p.Pro270=)
NM_001202.6(BMP4):c.813C>T (p.Leu271=)
NM_001202.6(BMP4):c.954C>T (p.Ser318=)
NM_001202.6(BMP4):c.957T>C (p.Asp319=)

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