ClinVar Miner

List of variants reported as benign for peripheral vascular disease by Genome-Nilou Lab

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.4774+16T>A rs10180721 0.89276
NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg) rs6746030 0.87930
NM_001365536.1(SCN9A):c.596+25C>T rs4429487 0.74453
NM_001365536.1(SCN9A):c.1107+48C>T rs7588632 0.70514
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893 0.56480
NM_000020.3(ACVRL1):c.314-35A>G rs2071219 0.46706
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_000020.3(ACVRL1):c.1378-248T>G rs2656315 0.32172
NM_000020.3(ACVRL1):c.1378-405A>G rs813471 0.31751
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31560
NM_000020.3(ACVRL1):c.1377+65A>G rs706816 0.31557
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381 0.08706
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383 0.08548
NM_000020.3(ACVRL1):c.625+164T>C rs77709482 0.07925
NM_000020.3(ACVRL1):c.-5-33C>T rs2277382 0.07716
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_000020.3(ACVRL1):c.1378-339T>G rs74094826 0.05144
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817 0.04840
NM_000020.3(ACVRL1):c.1378-217A>G rs772003 0.04704
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_000020.3(ACVRL1):c.61+22A>G rs706812 0.03730
NM_000020.3(ACVRL1):c.626-53C>T rs111245531 0.02158
NM_000020.3(ACVRL1):c.1378-30T>C rs142910573 0.02009
NM_000020.3(ACVRL1):c.*58G>A rs182368657 0.01817
NM_000020.3(ACVRL1):c.314-65G>C rs113559681 0.01773
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) rs77341011 0.01461
NM_000020.3(ACVRL1):c.-46C>G rs190953189 0.01297
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.1246+19C>T rs185343653 0.00959
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744 0.00958
NM_000020.3(ACVRL1):c.62-69G>T rs114852790 0.00802
NM_000020.3(ACVRL1):c.772+24C>T rs151169686 0.00421
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000020.3(ACVRL1):c.1247-15A>G rs186868158 0.00056
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=) rs139008591 0.00045
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00040
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=) rs55802125 0.00024
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=) rs56379428 0.00011
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059

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