ClinVar Miner

List of variants in gene CHMP1A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_002768.5(CHMP1A):c.8-78A>T rs258338 0.98629
NM_002768.5(CHMP1A):c.569+46G>A rs460879 0.40715
NM_002768.5(CHMP1A):c.252+111C>T rs2437957 0.37111
NM_002768.5(CHMP1A):c.253-283A>G rs2460457 0.34451
NM_002768.5(CHMP1A):c.253-317C>T rs28436701 0.33935
NM_002768.5(CHMP1A):c.105+266C>T rs407863 0.33633
NM_002768.5(CHMP1A):c.382-52G>A rs460984 0.31852
NM_002768.5(CHMP1A):c.253-230A>G rs428232 0.28831
NM_002768.5(CHMP1A):c.106-317C>A rs4785699 0.24138
NM_002768.5(CHMP1A):c.105+255dup rs143871521 0.21161
NM_002768.5(CHMP1A):c.252+95G>A rs72805595 0.20680
NM_002768.5(CHMP1A):c.106-235A>G rs145615852 0.20191
NM_002768.5(CHMP1A):c.253-199A>G rs11648089 0.06641
NM_002768.5(CHMP1A):c.105+233T>C rs139835877 0.05878
NM_002768.5(CHMP1A):c.*100T>G rs117555004 0.03320
NM_002768.5(CHMP1A):c.381+217G>T rs74033818 0.02817
NM_002768.5(CHMP1A):c.252+143C>T rs150752906 0.02482
NM_002768.5(CHMP1A):c.*95G>A rs61747591 0.02334
NM_002768.5(CHMP1A):c.569+154G>A rs115187185 0.01995
NM_002768.5(CHMP1A):c.105+105G>A rs8052569 0.01900
NM_002768.5(CHMP1A):c.-31C>T rs73262948 0.01858
NM_002768.5(CHMP1A):c.252+88A>G rs2303774 0.01838
NM_002768.5(CHMP1A):c.381+188G>A rs118148658 0.01796
NM_002768.5(CHMP1A):c.*336A>C rs3751692 0.01794
NM_002768.5(CHMP1A):c.106-316A>G rs143538264 0.01794
NM_002768.5(CHMP1A):c.106-271C>T rs148889674 0.01787
NM_002768.5(CHMP1A):c.381+48G>C rs79284383 0.01786
NM_002768.5(CHMP1A):c.28-169C>T rs12599306 0.01764
NM_002768.5(CHMP1A):c.252+63G>A rs2303773 0.01760
NM_002768.5(CHMP1A):c.7+286C>G rs76607656 0.01647
NM_002768.5(CHMP1A):c.570-20G>C rs57359584 0.01608
NM_002768.5(CHMP1A):c.253-234C>G rs202170255 0.01540
NM_002768.5(CHMP1A):c.253-26C>T rs72805593 0.01378
NM_002768.5(CHMP1A):c.253-275T>C rs12447723 0.01370
NM_002768.5(CHMP1A):c.382-8G>T rs116634240 0.01279
NM_002768.5(CHMP1A):c.106-179A>G rs149748642 0.01260
NM_002768.5(CHMP1A):c.28-37C>T rs73262929 0.01082
NM_002768.5(CHMP1A):c.28-168G>A rs115217261 0.01059
NM_002768.5(CHMP1A):c.252+37C>T rs144024254 0.00874
NM_002768.5(CHMP1A):c.253-102G>A rs145548836 0.00715
NM_002768.5(CHMP1A):c.570-128T>G rs141857967 0.00650
NM_002768.5(CHMP1A):c.253-54G>A rs116472480 0.00533
NM_002768.5(CHMP1A):c.106-190A>G rs540014537 0.00449
NM_002768.5(CHMP1A):c.210C>T (p.Asp70=) rs114931496 0.00440
NM_002768.5(CHMP1A):c.507C>T (p.Pro169=) rs61730918 0.00439
NM_002768.5(CHMP1A):c.381+36G>C rs201303986 0.00434
NM_002768.5(CHMP1A):c.27+10G>A rs140547967 0.00420
NM_002768.5(CHMP1A):c.106-102C>T rs146429852 0.00333
NM_002768.5(CHMP1A):c.253-242C>T rs552235751 0.00323
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=) rs187184327 0.00114
NM_002768.5(CHMP1A):c.7+13G>T rs369307331 0.00101
NM_002768.5(CHMP1A):c.33G>A (p.Thr11=) rs200710259 0.00071
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=) rs201479143 0.00066
NM_002768.5(CHMP1A):c.408C>T (p.Ala136=) rs61730919 0.00047
NM_002768.5(CHMP1A):c.253-17G>A rs201254382 0.00044
NM_002768.5(CHMP1A):c.28-14C>T rs200605916 0.00034
NM_002768.5(CHMP1A):c.130T>A (p.Cys44Ser) rs372234497 0.00029
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00014
NM_002768.5(CHMP1A):c.204C>T (p.Arg68=) rs199628110 0.00012
NM_002768.5(CHMP1A):c.190C>T (p.Arg64Trp) rs371497296 0.00011
NM_002768.5(CHMP1A):c.*7C>T rs768229451 0.00010
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=) rs200606123 0.00010
NM_002768.5(CHMP1A):c.81G>C (p.Lys27Asn) rs371305175 0.00005
NM_002768.5(CHMP1A):c.106-10C>T rs199882131 0.00004
NM_002768.5(CHMP1A):c.197C>T (p.Ala66Val) rs767659184 0.00004
NM_002768.5(CHMP1A):c.382-9T>C rs767954972 0.00004
NM_002768.5(CHMP1A):c.114G>A (p.Leu38=) rs369898047 0.00003
NM_002768.5(CHMP1A):c.136C>T (p.Arg46Cys) rs201409761 0.00003
NM_002768.5(CHMP1A):c.171C>T (p.Asn57=) rs201334099 0.00003
NM_002768.5(CHMP1A):c.258C>G (p.Thr86=) rs943952854 0.00002
NM_002768.5(CHMP1A):c.552G>C (p.Glu184Asp) rs375912713 0.00002
NM_002768.5(CHMP1A):c.154G>A (p.Ala52Thr) rs754395235 0.00001
NM_002768.5(CHMP1A):c.205G>A (p.Val69Ile) rs773029258 0.00001
NM_002768.5(CHMP1A):c.213A>G (p.Ala71=) rs546864527 0.00001
NM_002768.5(CHMP1A):c.28-6G>A rs753406733 0.00001
NM_002768.5(CHMP1A):c.382-7C>T rs886978768 0.00001
NM_002768.5(CHMP1A):c.384G>A (p.Val128=) rs2059776630 0.00001
NC_000016.9:g.(?_89712474)_(89720351_?)dup
NM_002768.5(CHMP1A):c.*392C>G rs73265376
NM_002768.5(CHMP1A):c.*436T>G rs78208987
NM_002768.5(CHMP1A):c.*68C>G
NM_002768.5(CHMP1A):c.*94C>T rs116954456
NM_002768.5(CHMP1A):c.-94_-81del rs565224984
NM_002768.5(CHMP1A):c.105+10T>G
NM_002768.5(CHMP1A):c.105+168GTTT[6] rs141950187
NM_002768.5(CHMP1A):c.105+168GTTT[8] rs141950187
NM_002768.5(CHMP1A):c.105+8C>T
NM_002768.5(CHMP1A):c.106-11G>A
NM_002768.5(CHMP1A):c.106-11G>C rs3815949
NM_002768.5(CHMP1A):c.106-12C>T
NM_002768.5(CHMP1A):c.106-12del
NM_002768.5(CHMP1A):c.106-142C>T rs139789687
NM_002768.5(CHMP1A):c.106-17T>C
NM_002768.5(CHMP1A):c.123T>C (p.Asn41=)
NM_002768.5(CHMP1A):c.175G>A (p.Gly59Ser)
NM_002768.5(CHMP1A):c.191G>A (p.Arg64Gln)
NM_002768.5(CHMP1A):c.19del (p.Gln7fs) rs2151516798
NM_002768.5(CHMP1A):c.211G>A (p.Ala71Thr)
NM_002768.5(CHMP1A):c.219C>A (p.Ala73=)
NM_002768.5(CHMP1A):c.252+154_252+218del rs3217333
NM_002768.5(CHMP1A):c.252+163_252+193del rs750324354
NM_002768.5(CHMP1A):c.252+17_252+18insA
NM_002768.5(CHMP1A):c.252+923T>G
NM_002768.5(CHMP1A):c.252+937G>A
NM_002768.5(CHMP1A):c.252+965T>G
NM_002768.5(CHMP1A):c.252+9T>G
NM_002768.5(CHMP1A):c.253-14C>G
NM_002768.5(CHMP1A):c.253-18C>T
NM_002768.5(CHMP1A):c.253-208T>C rs113121772
NM_002768.5(CHMP1A):c.253-222G>A
NM_002768.5(CHMP1A):c.253-241A>G rs413636
NM_002768.5(CHMP1A):c.253-249G>A
NM_002768.5(CHMP1A):c.253-250T>C rs11076608
NM_002768.5(CHMP1A):c.253-250T>G rs11076608
NM_002768.5(CHMP1A):c.253-270G>A rs367697747
NM_002768.5(CHMP1A):c.253-272A>G rs549597342
NM_002768.5(CHMP1A):c.253-292C>G rs1217538514
NM_002768.5(CHMP1A):c.253-306G>C rs11641793
NM_002768.5(CHMP1A):c.253-327G>A
NM_002768.5(CHMP1A):c.28-11C>G
NM_002768.5(CHMP1A):c.285C>T (p.Ala95=)
NM_002768.5(CHMP1A):c.286C>T (p.Leu96=)
NM_002768.5(CHMP1A):c.297C>T (p.Ala99=)
NM_002768.5(CHMP1A):c.303C>T (p.Ser101=)
NM_002768.5(CHMP1A):c.321G>A (p.Lys107=)
NM_002768.5(CHMP1A):c.333G>A (p.Val111=)
NM_002768.5(CHMP1A):c.339C>T (p.Asp113=)
NM_002768.5(CHMP1A):c.345C>T (p.Phe115=)
NM_002768.5(CHMP1A):c.346G>C (p.Glu116Gln) rs1064794609
NM_002768.5(CHMP1A):c.370G>A (p.Val124Ile)
NM_002768.5(CHMP1A):c.378A>G (p.Thr126=)
NM_002768.5(CHMP1A):c.380C>G (p.Ser127Trp) rs201945919
NM_002768.5(CHMP1A):c.381+17C>T
NM_002768.5(CHMP1A):c.382-103dup rs138639153
NM_002768.5(CHMP1A):c.382-175G>T rs139678649
NM_002768.5(CHMP1A):c.382-6C>T
NM_002768.5(CHMP1A):c.404C>T (p.Ser135Leu)
NM_002768.5(CHMP1A):c.405G>A (p.Ser135=)
NM_002768.5(CHMP1A):c.423G>A (p.Thr141=)
NM_002768.5(CHMP1A):c.426G>A (p.Pro142=)
NM_002768.5(CHMP1A):c.459C>T (p.Ile153=)
NM_002768.5(CHMP1A):c.462C>T (p.Ala154=)
NM_002768.5(CHMP1A):c.488A>G (p.Asp163Gly)
NM_002768.5(CHMP1A):c.489C>A (p.Asp163Glu)
NM_002768.5(CHMP1A):c.497G>T (p.Ser166Ile) rs1242383314
NM_002768.5(CHMP1A):c.513C>T (p.Gly171=)
NM_002768.5(CHMP1A):c.514G>A (p.Ala172Thr)
NM_002768.5(CHMP1A):c.516C>T (p.Ala172=)
NM_002768.5(CHMP1A):c.522C>T (p.Ala174=)
NM_002768.5(CHMP1A):c.528C>T (p.Gly176=)
NM_002768.5(CHMP1A):c.541C>T (p.Arg181Cys)
NM_002768.5(CHMP1A):c.542G>A (p.Arg181His)
NM_002768.5(CHMP1A):c.558G>C (p.Gln186His) rs1567999354
NM_002768.5(CHMP1A):c.569+202G>A rs62068734
NM_002768.5(CHMP1A):c.569+20C>T
NM_002768.5(CHMP1A):c.570-17C>G
NM_002768.5(CHMP1A):c.7+261C>A rs115266903
NM_002768.5(CHMP1A):c.8-150dup rs59326830
NM_002768.5(CHMP1A):c.8-165C>A rs74408258
NM_002768.5(CHMP1A):c.8-5T>C
NM_002768.5(CHMP1A):c.84G>A (p.Ala28=)

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