ClinVar Miner

List of variants studied for congenital limb malformation by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs) rs1593903422
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_001378183.1(PIEZO2):c.4244_4245del (p.Thr1415fs) rs1598431052
NM_001378183.1(PIEZO2):c.6055C>T (p.Arg2019Ter) rs764171255
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu) rs1592232580
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr) rs1566012539
NM_002470.4(MYH3):c.4405dup (p.Glu1469fs) rs1597482824
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs) rs1309599304
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) rs1562313702
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro) rs1660016633
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) rs1558788291
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg) rs1602975122
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter) rs1596194950
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer) rs1747566758
NM_139284.3(LGI4):c.834del (p.Ser279fs) rs1600470099
NM_182895.5(SCARF2):c.25del (p.Ala9fs) rs1215759021

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.