ClinVar Miner

List of variants in gene BMP4 reported by GeneDx

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001202.6(BMP4):c.-7-39A>G rs2761880 0.83514
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.43916
NM_001202.6(BMP4):c.*148_*149del rs140085940 0.04712
NM_001202.6(BMP4):c.*88C>T rs74054236 0.04584
NM_001202.6(BMP4):c.-7-133G>C rs79762003 0.02428
NM_001202.6(BMP4):c.371-24C>T rs34984774 0.00953
NM_001202.6(BMP4):c.345C>T (p.Asn115=) rs143687498 0.00050
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.898C>T (p.Arg300Trp) rs182373336 0.00008
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.215A>G (p.Gln72Arg) rs771047931 0.00001
NM_001202.6(BMP4):c.224A>G (p.Lys75Arg) rs777501416 0.00001
NM_001202.6(BMP4):c.351G>A (p.Val117=) rs967937256 0.00001
NC_000014.9:g.53949729del rs3842701
NM_001202.6(BMP4):c.*146_*148dup rs1555339771
NM_001202.6(BMP4):c.*148_*149insAAT rs796563569
NM_001202.6(BMP4):c.*148_*149insAT rs796563569
NM_001202.6(BMP4):c.*148_*149insT rs796563569
NM_001202.6(BMP4):c.*148del rs1555339771
NM_001202.6(BMP4):c.-7-159T>G rs35107139
NM_001202.6(BMP4):c.-7-163C>G rs10130587
NM_001202.6(BMP4):c.1010G>A (p.Cys337Tyr)
NM_001202.6(BMP4):c.245_248dup (p.Met83fs)
NM_001202.6(BMP4):c.248T>G (p.Met83Arg)
NM_001202.6(BMP4):c.277G>T (p.Glu93Ter) rs2502592704
NM_001202.6(BMP4):c.370+160C>T rs2071047
NM_001202.6(BMP4):c.370+1G>T rs2140237414
NM_001202.6(BMP4):c.380_392del (p.Glu127fs) rs1064795374
NM_001202.6(BMP4):c.398G>A (p.Ser133Asn) rs1009117343
NM_001202.6(BMP4):c.512G>A (p.Trp171Ter) rs1064796998
NM_001202.6(BMP4):c.645T>G (p.Phe215Leu)
NM_001202.6(BMP4):c.676del (p.Arg226fs)
NM_001202.6(BMP4):c.766C>T (p.Arg256Ter) rs756779422
NM_001202.6(BMP4):c.818T>C (p.Val273Ala) rs2140234580
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys) rs770777693

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