ClinVar Miner

List of variants reported as likely pathogenic for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NC_000004.12:g.(?_5729297)_(5758135_?)del
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) rs1597795170
NM_004247.4(EFTUD2):c.2045+2T>G rs863224868
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) rs1597789186
NM_004247.4(EFTUD2):c.2551del (p.Ala851fs) rs1555564126
NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) rs1556105849
NM_004429.4(EFNB1):c.407C>T (p.Ser136Leu) rs1057519033
NM_004429.4(EFNB1):c.466C>T (p.Arg156Cys) rs1057519034
NM_004429.4(EFNB1):c.499+1G>A rs1556107481
NM_004429.4(EFNB1):c.499+2_499+7del rs1602671282
NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) rs1556107856
NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)
NM_004429.5(EFNB1):c.453_454TG[4] (p.Arg154fs)
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.3273-2del
NM_147127.5(EVC2):c.3361-2A>G
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.450+2T>C rs781096099
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_153717.3(EVC):c.1777-1G>A rs1262933856
NM_153717.3(EVC):c.1886+1G>C
NM_153717.3(EVC):c.2562-2A>G rs1293098417
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.617+1G>A
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del) rs755381180
NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_212472.2(PRKAR1A):c.620A>G (p.Tyr207Cys) rs1600486197

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.