ClinVar Miner

List of variants in gene CUBN studied for Inborn genetic diseases

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Gene type:
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Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211 0.00034
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.6344A>G (p.Asn2115Ser) rs143835350 0.00020
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222 0.00019
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308 0.00017
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_001081.4(CUBN):c.323G>A (p.Ser108Asn) rs543983858 0.00010
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His) rs151039810 0.00010
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.6320A>C (p.Lys2107Thr) rs368864485 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_001081.4(CUBN):c.8765G>A (p.Ser2922Asn) rs777692110 0.00008
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.1999A>G (p.Thr667Ala) rs141089159 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.3802C>T (p.Arg1268Cys) rs747558831 0.00006
NM_001081.4(CUBN):c.5084G>A (p.Arg1695His) rs145880377 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_001081.4(CUBN):c.7300G>A (p.Gly2434Ser) rs144565631 0.00005
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.2923G>A (p.Glu975Lys) rs199835213 0.00004
NM_001081.4(CUBN):c.3496G>A (p.Gly1166Arg) rs201443885 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4301A>G (p.His1434Arg) rs147373223 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001081.4(CUBN):c.3088C>A (p.Leu1030Ile) rs746111876 0.00002
NM_001081.4(CUBN):c.6005A>G (p.Asn2002Ser) rs368261414 0.00002
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.4906C>T (p.Arg1636Trp) rs551594427 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.5744G>C (p.Gly1915Ala) rs1483369204 0.00001
NM_001081.4(CUBN):c.10046C>T (p.Ser3349Leu)
NM_001081.4(CUBN):c.10143C>A (p.Asn3381Lys)
NM_001081.4(CUBN):c.1021C>G (p.Gln341Glu)
NM_001081.4(CUBN):c.10285C>G (p.Gln3429Glu)
NM_001081.4(CUBN):c.10586G>C (p.Gly3529Ala)
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
NM_001081.4(CUBN):c.1073G>A (p.Gly358Glu)
NM_001081.4(CUBN):c.10804G>A (p.Val3602Ile)
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1529A>C (p.Lys510Thr)
NM_001081.4(CUBN):c.1606G>A (p.Asp536Asn)
NM_001081.4(CUBN):c.1685A>G (p.Asn562Ser)
NM_001081.4(CUBN):c.1771G>A (p.Gly591Arg)
NM_001081.4(CUBN):c.1772G>A (p.Gly591Glu)
NM_001081.4(CUBN):c.1795G>A (p.Gly599Ser)
NM_001081.4(CUBN):c.1816T>C (p.Tyr606His)
NM_001081.4(CUBN):c.2093C>T (p.Thr698Ile)
NM_001081.4(CUBN):c.20C>A (p.Pro7His)
NM_001081.4(CUBN):c.224A>G (p.Asp75Gly)
NM_001081.4(CUBN):c.2378G>A (p.Ser793Asn)
NM_001081.4(CUBN):c.2527A>T (p.Arg843Trp)
NM_001081.4(CUBN):c.2641A>G (p.Ile881Val)
NM_001081.4(CUBN):c.2672G>T (p.Cys891Phe)
NM_001081.4(CUBN):c.2834G>A (p.Ser945Asn)
NM_001081.4(CUBN):c.2876C>T (p.Thr959Ile)
NM_001081.4(CUBN):c.2900A>G (p.Asn967Ser)
NM_001081.4(CUBN):c.2951A>G (p.Asn984Ser) rs200851536
NM_001081.4(CUBN):c.3085G>A (p.Asp1029Asn)
NM_001081.4(CUBN):c.3210C>G (p.Asn1070Lys)
NM_001081.4(CUBN):c.3230G>A (p.Arg1077Gln) rs184585798
NM_001081.4(CUBN):c.3357G>T (p.Leu1119Phe)
NM_001081.4(CUBN):c.3426A>T (p.Lys1142Asn)
NM_001081.4(CUBN):c.3529A>G (p.Ile1177Val)
NM_001081.4(CUBN):c.3685C>G (p.Pro1229Ala)
NM_001081.4(CUBN):c.4033C>T (p.Arg1345Trp)
NM_001081.4(CUBN):c.4178G>C (p.Gly1393Ala)
NM_001081.4(CUBN):c.4223C>G (p.Pro1408Arg)
NM_001081.4(CUBN):c.4235C>T (p.Pro1412Leu)
NM_001081.4(CUBN):c.430G>T (p.Gly144Cys)
NM_001081.4(CUBN):c.4393C>G (p.Leu1465Val)
NM_001081.4(CUBN):c.4558G>A (p.Glu1520Lys)
NM_001081.4(CUBN):c.4652A>G (p.Asn1551Ser)
NM_001081.4(CUBN):c.4873C>T (p.Leu1625Phe)
NM_001081.4(CUBN):c.4907G>A (p.Arg1636Gln) rs538984401
NM_001081.4(CUBN):c.4943G>A (p.Ser1648Asn)
NM_001081.4(CUBN):c.5191G>C (p.Val1731Leu)
NM_001081.4(CUBN):c.5222C>T (p.Thr1741Met)
NM_001081.4(CUBN):c.5243T>C (p.Ile1748Thr)
NM_001081.4(CUBN):c.5249A>G (p.Asn1750Ser)
NM_001081.4(CUBN):c.5387T>C (p.Val1796Ala)
NM_001081.4(CUBN):c.5509T>C (p.Ser1837Pro)
NM_001081.4(CUBN):c.5573del (p.Gly1858fs) rs1842591499
NM_001081.4(CUBN):c.5675G>T (p.Gly1892Val)
NM_001081.4(CUBN):c.5951C>T (p.Thr1984Met)
NM_001081.4(CUBN):c.6040G>A (p.Asp2014Asn)
NM_001081.4(CUBN):c.6101A>G (p.Tyr2034Cys)
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
NM_001081.4(CUBN):c.6145C>G (p.Gln2049Glu)
NM_001081.4(CUBN):c.6193A>G (p.Thr2065Ala)
NM_001081.4(CUBN):c.6202T>C (p.Tyr2068His)
NM_001081.4(CUBN):c.6256G>A (p.Ala2086Thr)
NM_001081.4(CUBN):c.6362A>G (p.His2121Arg)
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
NM_001081.4(CUBN):c.6444C>G (p.Asn2148Lys)
NM_001081.4(CUBN):c.6467G>T (p.Arg2156Ile)
NM_001081.4(CUBN):c.6511G>C (p.Gly2171Arg)
NM_001081.4(CUBN):c.6641G>A (p.Ser2214Asn)
NM_001081.4(CUBN):c.6867T>G (p.Asp2289Glu)
NM_001081.4(CUBN):c.6868G>A (p.Ala2290Thr)
NM_001081.4(CUBN):c.6904C>T (p.Pro2302Ser)
NM_001081.4(CUBN):c.7087T>C (p.Cys2363Arg)
NM_001081.4(CUBN):c.7120T>C (p.Tyr2374His)
NM_001081.4(CUBN):c.7121A>C (p.Tyr2374Ser)
NM_001081.4(CUBN):c.7291G>T (p.Val2431Phe)
NM_001081.4(CUBN):c.7312G>C (p.Ala2438Pro)
NM_001081.4(CUBN):c.7409A>G (p.Asn2470Ser)
NM_001081.4(CUBN):c.7454C>G (p.Pro2485Arg)
NM_001081.4(CUBN):c.7489C>A (p.Leu2497Met)
NM_001081.4(CUBN):c.7495C>G (p.Leu2499Val)
NM_001081.4(CUBN):c.755T>C (p.Met252Thr)
NM_001081.4(CUBN):c.7733C>T (p.Pro2578Leu)
NM_001081.4(CUBN):c.7788C>A (p.Asn2596Lys)
NM_001081.4(CUBN):c.7814A>G (p.Asn2605Ser)
NM_001081.4(CUBN):c.7870A>C (p.Ser2624Arg)
NM_001081.4(CUBN):c.7907G>A (p.Arg2636Gln)
NM_001081.4(CUBN):c.8036G>C (p.Gly2679Ala)
NM_001081.4(CUBN):c.8293G>A (p.Gly2765Arg)
NM_001081.4(CUBN):c.8357A>G (p.Asp2786Gly)
NM_001081.4(CUBN):c.8409A>T (p.Leu2803Phe)
NM_001081.4(CUBN):c.8444C>T (p.Thr2815Ile)
NM_001081.4(CUBN):c.8471A>G (p.Asn2824Ser)
NM_001081.4(CUBN):c.8539T>A (p.Phe2847Ile)
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.4(CUBN):c.8696C>G (p.Thr2899Ser)
NM_001081.4(CUBN):c.871G>A (p.Ala291Thr)
NM_001081.4(CUBN):c.8780C>T (p.Pro2927Leu)
NM_001081.4(CUBN):c.8851G>A (p.Glu2951Lys)
NM_001081.4(CUBN):c.9001G>A (p.Asp3001Asn)
NM_001081.4(CUBN):c.9095A>G (p.Tyr3032Cys)
NM_001081.4(CUBN):c.9107C>T (p.Ser3036Phe)
NM_001081.4(CUBN):c.9272G>T (p.Cys3091Phe)
NM_001081.4(CUBN):c.943G>A (p.Gly315Ser)
NM_001081.4(CUBN):c.9446A>C (p.Gln3149Pro)
NM_001081.4(CUBN):c.9509C>T (p.Ser3170Phe)
NM_001081.4(CUBN):c.9512C>T (p.Pro3171Leu)
NM_001081.4(CUBN):c.964G>A (p.Val322Ile)
NM_001081.4(CUBN):c.9941C>T (p.Pro3314Leu)

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