ClinVar Miner

List of variants studied for visceral heterotaxy by Genome-Nilou Lab

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138295.5(PKD1L1):c.7173+31G>A rs6463449 0.98446
NM_138295.5(PKD1L1):c.3814A>G (p.Lys1272Glu) rs1470859 0.86841
NM_138295.5(PKD1L1):c.7963-33A>G rs1466203 0.84115
NM_138295.5(PKD1L1):c.1229-16A>G rs1474283 0.71820
NM_138295.5(PKD1L1):c.6180T>C (p.Pro2060=) rs921634 0.71557
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) rs2070489 0.51926
NM_001106.4(ACVR2B):c.811-13T>C rs13097628 0.42596
NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=) rs1046048 0.42251
NM_138295.5(PKD1L1):c.4961-38C>T rs10280228 0.40134
NM_138295.5(PKD1L1):c.5237+38T>C rs13237611 0.38615
NM_138295.5(PKD1L1):c.3896+38A>G rs62447062 0.37266
NM_138295.5(PKD1L1):c.3784+44C>G rs4724654 0.37222
NM_138295.5(PKD1L1):c.3784+18T>C rs4724655 0.37208
NM_138295.5(PKD1L1):c.3520+28C>G rs17131896 0.36977
NM_138295.5(PKD1L1):c.3501C>T (p.Tyr1167=) rs62447081 0.36755
NM_018055.5(NODAL):c.193+12C>T rs10999338 0.35409
NM_138295.5(PKD1L1):c.3813C>T (p.Gly1271=) rs73105162 0.32993
NM_138295.5(PKD1L1):c.3785-7C>T rs17131867 0.32980
NM_138295.5(PKD1L1):c.3267T>A (p.Ala1089=) rs10951936 0.29797
NM_138295.5(PKD1L1):c.1931+22G>A rs11766212 0.29397
NM_138295.5(PKD1L1):c.6720A>G (p.Ala2240=) rs7788583 0.20573
NM_138295.5(PKD1L1):c.6062C>T (p.Pro2021Leu) rs66755489 0.16688
NM_138295.5(PKD1L1):c.7347-5T>C rs73103467 0.14955
NM_138295.5(PKD1L1):c.8053G>A (p.Ala2685Thr) rs13231277 0.14434
NM_138295.5(PKD1L1):c.3158G>C (p.Arg1053Pro) rs10274334
NM_138295.5(PKD1L1):c.3833C>A (p.Pro1278Gln) rs78833972
NM_138295.5(PKD1L1):c.4362+46dup rs34177211

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.