ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant slowed nerve conduction velocity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr) rs147531758 0.00123
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val) rs151080025 0.00082
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn) rs143290224 0.00051
NM_014629.4(ARHGEF10):c.3098A>G (p.Glu1033Gly) rs189989926 0.00044
NM_014629.4(ARHGEF10):c.3869C>T (p.Ser1290Leu) rs150226594 0.00041
NM_014629.4(ARHGEF10):c.2460C>G (p.Asn820Lys) rs61758704 0.00009
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712 0.00002
NM_014629.4(ARHGEF10):c.1030A>G (p.Lys344Glu)
NM_014629.4(ARHGEF10):c.1076-3_1076-2delinsTG
NM_014629.4(ARHGEF10):c.121G>T (p.Glu41Ter) rs764859351
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter) rs1467438651
NM_014629.4(ARHGEF10):c.1343A>G (p.Glu448Gly) rs1809808538
NM_014629.4(ARHGEF10):c.1606del (p.Met535_Met536insTer)
NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys) rs1437730951
NM_014629.4(ARHGEF10):c.1812C>A (p.Tyr604Ter) rs1332591469
NM_014629.4(ARHGEF10):c.1936G>A (p.Asp646Asn)
NM_014629.4(ARHGEF10):c.2005T>G (p.Tyr669Asp)
NM_014629.4(ARHGEF10):c.2134G>T (p.Ala712Ser) rs1057523214
NM_014629.4(ARHGEF10):c.2711C>G (p.Thr904Ser)
NM_014629.4(ARHGEF10):c.343G>T (p.Glu115Ter) rs1585296361
NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs) rs1563343679
NM_014629.4(ARHGEF10):c.541A>G (p.Thr181Ala) rs746857277
NM_014629.4(ARHGEF10):c.679+2T>A
NM_014629.4(ARHGEF10):c.990C>A (p.Asp330Glu) rs372309933

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.