ClinVar Miner

List of variants in gene CAD reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_004341.5(CAD):c.3541C>T (p.Arg1181Trp) rs145562987 0.00092
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00064
NM_004341.5(CAD):c.461A>G (p.Asn154Ser) rs147694325 0.00027
NM_004341.5(CAD):c.4954C>T (p.Arg1652Cys) rs200577574 0.00025
NM_004341.5(CAD):c.3309G>A (p.Thr1103=) rs771911380 0.00009
NM_004341.5(CAD):c.4955G>A (p.Arg1652His) rs745334945 0.00008
NM_004341.5(CAD):c.4711G>A (p.Val1571Met) rs749357163 0.00005
NM_004341.5(CAD):c.467G>A (p.Arg156His) rs147103288 0.00004
NM_004341.5(CAD):c.4982G>A (p.Arg1661Gln) rs759512634 0.00004
NM_004341.5(CAD):c.5148G>A (p.Thr1716=) rs374597627 0.00004
NM_004341.5(CAD):c.392A>T (p.Gln131Leu) rs1048689342 0.00003
NM_004341.5(CAD):c.1402C>T (p.Arg468Cys) rs779056625 0.00002
NM_004341.5(CAD):c.2156+5G>A rs769966773 0.00002
NM_004341.5(CAD):c.5158G>A (p.Glu1720Lys) rs749076924 0.00002
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys) rs770953907 0.00001
NM_004341.5(CAD):c.3016G>A (p.Glu1006Lys) rs748783583 0.00001
NM_004341.5(CAD):c.3418G>A (p.Val1140Met) rs988886378 0.00001
NM_004341.5(CAD):c.358G>T (p.Asp120Tyr) rs756979309 0.00001
NM_004341.5(CAD):c.3884G>A (p.Arg1295His) rs1211373184 0.00001
NM_004341.5(CAD):c.4760T>C (p.Ile1587Thr) rs370372528 0.00001
NM_004341.5(CAD):c.4981C>T (p.Arg1661Trp) rs774531248 0.00001
NM_004341.5(CAD):c.5354G>A (p.Arg1785His) rs750293336 0.00001
NM_004341.5(CAD):c.5646G>A (p.Met1882Ile) rs558814416 0.00001
NM_004341.5(CAD):c.6061G>A (p.Val2021Ile) rs762035791 0.00001
NM_004341.5(CAD):c.6070C>T (p.Arg2024Trp) rs773337965 0.00001
NM_004341.5(CAD):c.943G>A (p.Ala315Thr) rs142361149 0.00001
NM_004341.5(CAD):c.1249T>C (p.Ser417Pro) rs1441125951
NM_004341.5(CAD):c.1834T>C (p.Cys612Arg)
NM_004341.5(CAD):c.3695T>C (p.Val1232Ala)
NM_004341.5(CAD):c.3815C>T (p.Ala1272Val)
NM_004341.5(CAD):c.4545_4550del (p.1516LA[1]) rs1223209419
NM_004341.5(CAD):c.4837T>C (p.Cys1613Arg) rs759326745
NM_004341.5(CAD):c.5500C>T (p.Pro1834Ser)
NM_004341.5(CAD):c.5527G>A (p.Gly1843Arg)

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