ClinVar Miner

List of variants reported as benign for Spondyloepiphyseal dysplasia, Kimberley type

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.1809T>C (p.Ala603=) rs1568116 0.99001
NM_001369268.1(ACAN):c.5293A>G (p.Ile1765Val) rs4932439 0.82806
NM_001369268.1(ACAN):c.6423T>C (p.Leu2141=) rs1042631 0.78503
NM_001369268.1(ACAN):c.1623C>A (p.Pro541=) rs2272023 0.76227
NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val) rs1042630 0.70861
NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile) rs938608 0.55508
NM_001369268.1(ACAN):c.757+53T>G rs2293087 0.52913
NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr) rs938609 0.51872
NM_001369268.1(ACAN):c.2289C>T (p.Pro763=) rs2351491 0.48499
NM_001369268.1(ACAN):c.3294C>T (p.Thr1098=) rs62023519 0.41213
NM_001369268.1(ACAN):c.7303-110T>G rs16942409 0.38497
NM_001369268.1(ACAN):c.7613A>G (p.Gln2538Arg) rs1126823 0.37353
NM_001369268.1(ACAN):c.3009C>T (p.Thr1003=) rs4080952 0.25904
NM_001369268.1(ACAN):c.7631-7G>A rs2280465 0.20158
NM_001369268.1(ACAN):c.2591C>T (p.Pro864Leu) rs3743398 0.14751
NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=) rs530742363 0.13982
NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln) rs34949187 0.11995
NM_001369268.1(ACAN):c.2737C>A (p.Pro913Thr) rs35430524 0.08274
NM_001369268.1(ACAN):c.1221C>T (p.Val407=) rs16942341 0.06206
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) rs16942318 0.04874
NM_001369268.1(ACAN):c.1051+9C>T rs140556803 0.03259
NM_001369268.1(ACAN):c.1850G>A (p.Arg617His) rs34616796 0.02960
NM_001369268.1(ACAN):c.1515G>A (p.Ala505=) rs34957282 0.02765
NM_001369268.1(ACAN):c.1719A>G (p.Val573=) rs57669733 0.02762
NM_001369268.1(ACAN):c.1530G>A (p.Pro510=) rs34637731 0.02759
NM_001369268.1(ACAN):c.1866C>T (p.Cys622=) rs35652696 0.02757
NM_001369268.1(ACAN):c.1051+10G>A rs75524333 0.01573
NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) rs35676128 0.01518
NM_001369268.1(ACAN):c.3180C>T (p.Thr1060=) rs113229763 0.01413
NM_001369268.1(ACAN):c.4170C>G (p.Asp1390Glu) rs201822759 0.00980
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) rs117116488 0.00742
NM_001369268.1(ACAN):c.1476C>G (p.Thr492=) rs139042772 0.00741
NM_001369268.1(ACAN):c.438G>A (p.Leu146=) rs35600223 0.00715
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) rs181736584 0.00476
NM_001369268.1(ACAN):c.2247G>A (p.Val749=) rs137972043 0.00364
NM_001369268.1(ACAN):c.186C>T (p.Thr62=) rs191648646 0.00295
NM_001369268.1(ACAN):c.1398C>T (p.Thr466=) rs185960535 0.00264
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) rs190361551 0.00262
NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) rs148070768 0.00063
NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr) rs200412974 0.00058
NM_001369268.1(ACAN):c.204A>C (p.Pro68=) rs372041880 0.00024
NM_001369268.1(ACAN):c.2037G>A (p.Ala679=) rs372553119 0.00022
NM_001369268.1(ACAN):c.1430-40G>A rs12911138
NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser) rs144501729
NM_001369268.1(ACAN):c.2514G>A (p.Ser838=) rs3743399
NM_001369268.1(ACAN):c.4207A>G (p.Thr1403Ala) rs12899191
NM_001369268.1(ACAN):c.4523A>C (p.Glu1508Ala) rs2882676
NM_001369268.1(ACAN):c.5799T>G (p.Thr1933=) rs3825994
NM_001369268.1(ACAN):c.6780T>G (p.Ala2260=) rs698621
NM_001369268.1(ACAN):c.7119C>G (p.Phe2373Leu) rs2141638387
NM_001369268.1(ACAN):c.7499A>G (p.Lys2500Arg) rs2141644827
NM_001369268.1(ACAN):c.758-37del rs11324188

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