ClinVar Miner

List of variants in gene BMP4 studied for Orofacial cleft 11

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Total variants: 30
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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.*28A>T rs185647938 0.00213
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.*143A>T rs750395429 0.00042
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.*131A>T rs76149166 0.00015
NM_001202.6(BMP4):c.362A>G (p.His121Arg) rs376960358 0.00015
NM_001202.6(BMP4):c.305C>T (p.Thr102Ile) rs371239780 0.00004
NM_001202.6(BMP4):c.*272A>G rs568281464 0.00003
NM_001202.6(BMP4):c.753T>C (p.His251=) rs1460775726 0.00003
NM_001202.6(BMP4):c.*31T>A rs374037026 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.*149G>A rs74495140
NM_001202.6(BMP4):c.*254A>T rs1895269405
NM_001202.6(BMP4):c.*35C>G rs886050540
NM_001202.6(BMP4):c.1037C>T (p.Ala346Val) rs121912766
NM_001202.6(BMP4):c.169T>C (p.Phe57Leu)
NM_001202.6(BMP4):c.184C>G (p.Leu62Val) rs2140238102
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.370+12C>T rs368426865
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter) rs387906597

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