ClinVar Miner

List of variants studied for orofacial cleft 11 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
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.252G>A (p.Arg84=) rs781435238 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.93G>C (p.Gly31=) rs375563326 0.00003
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.215A>G (p.Gln72Arg) rs771047931 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.*4C>G
NM_001202.6(BMP4):c.1037C>T (p.Ala346Val) rs121912766
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.123C>A (p.His41Gln)
NM_001202.6(BMP4):c.184C>G (p.Leu62Val) rs2140238102
NM_001202.6(BMP4):c.190A>T (p.Met64Leu)
NM_001202.6(BMP4):c.208C>T (p.Arg70Cys)
NM_001202.6(BMP4):c.222C>T (p.Ser74=)
NM_001202.6(BMP4):c.239C>G (p.Pro80Arg)
NM_001202.6(BMP4):c.329C>T (p.Pro110Leu)
NM_001202.6(BMP4):c.338G>A (p.Arg113Gln)
NM_001202.6(BMP4):c.349G>T (p.Val117Leu)
NM_001202.6(BMP4):c.371-8G>A
NM_001202.6(BMP4):c.41G>A (p.Cys14Tyr)
NM_001202.6(BMP4):c.461C>T (p.Ser154Phe)
NM_001202.6(BMP4):c.484C>T (p.Arg162Trp)
NM_001202.6(BMP4):c.512G>A (p.Trp171Ter) rs1064796998
NM_001202.6(BMP4):c.530G>A (p.Arg177His)
NM_001202.6(BMP4):c.532A>G (p.Ile178Val)
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.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.740A>C (p.His247Pro)
NM_001202.6(BMP4):c.764G>A (p.Ser255Asn)
NM_001202.6(BMP4):c.785G>A (p.Ser262Asn)
NM_001202.6(BMP4):c.791A>G (p.Asn264Ser)
NM_001202.6(BMP4):c.830A>G (p.His277Arg)
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.877A>G (p.Ser293Gly)
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)

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