ClinVar Miner

List of variants studied for congenital limb malformation by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_018668.5(VPS33B):c.498+4A>G rs532940784 0.00001
GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter) rs2137509604
NM_000138.5(FBN1):c.2419+3delinsTTTTAGATCCATATTTTAG rs2141304945
NM_000138.5(FBN1):c.3589+1G>A rs1555398501
NM_001378183.1(PIEZO2):c.3095_3105del (p.Pro1032fs) rs1057519626
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg) rs1750917259
NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)
NM_002478.5(MYOD1):c.557dup (p.Arg188fs) rs1179926739
NM_004247.4(EFTUD2):c.1137G>C (p.Lys379Asn)
NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
NM_004826.4(ECEL1):c.2151+1G>T rs1421294063
NM_005450.6(NOG):c.101G>C (p.Arg34Pro)
NM_017617.5(NOTCH1):c.1116_1118delinsAC (p.Asn373fs) rs2133369937
NM_018062.4(FANCL):c.746_756del (p.Pro249fs) rs2104799800
NM_018062.4(FANCL):c.761_771del (p.Leu254fs) rs2104799592
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_033419.5(PGAP3):c.851A>G (p.His284Arg) rs776720232
NM_133433.4(NIPBL):c.328A>T (p.Lys110Ter)
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln) rs80358366
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_178565.5(RSPO2):c.125del (p.Gly42fs) rs1554579568
NM_198569.3(ADGRG6):c.2219T>A (p.Leu740Ter) rs2115031969

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.