ClinVar Miner

List of variants in gene CNTN1 studied for not provided

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Gene type:
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Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_001843.4(CNTN1):c.-77+241A>G rs1992607 0.88462
NM_001843.4(CNTN1):c.1228+123T>C rs1442193 0.69496
NM_001843.4(CNTN1):c.401-190G>T rs3816251 0.52600
NM_001843.4(CNTN1):c.986-52T>C rs2289522 0.51507
NM_001843.4(CNTN1):c.95-76A>T rs10879356 0.49609
NM_001843.4(CNTN1):c.497-118C>T rs17622354 0.40616
NM_001843.4(CNTN1):c.496+166T>C rs2897101 0.37136
NM_001843.4(CNTN1):c.2113+39C>G rs278911 0.29181
NM_001843.4(CNTN1):c.1964-179A>T rs278912 0.26798
NM_001843.4(CNTN1):c.2823+283G>A rs3794250 0.23710
NM_001843.4(CNTN1):c.2524-171C>G rs11614303 0.23444
NM_001843.4(CNTN1):c.62-50A>C rs2304819 0.23438
NM_001843.4(CNTN1):c.2981-72T>C rs11179698 0.23041
NM_001843.4(CNTN1):c.1228+308A>C rs7957480 0.17680
NM_001843.4(CNTN1):c.2981-81C>T rs12297122 0.14774
NM_001843.4(CNTN1):c.1683+121G>A rs10879390 0.11978
NM_001843.4(CNTN1):c.1963+237A>G rs11179300 0.11633
NM_001843.4(CNTN1):c.2981-238C>A rs10879631 0.11472
NM_001843.4(CNTN1):c.401-94C>T rs7299744 0.11236
NM_001843.4(CNTN1):c.2113+35A>G rs7309797 0.10172
NM_001843.4(CNTN1):c.2523+115A>C rs280362 0.09883
NM_001843.4(CNTN1):c.1963+85dup rs35422849 0.09817
NM_001843.4(CNTN1):c.2185-231C>T rs74893121 0.07976
NM_001843.4(CNTN1):c.2184+34G>A rs397967 0.07152
NM_001843.4(CNTN1):c.1228+236A>T rs76625216 0.06906
NM_001843.4(CNTN1):c.1111-72C>A rs73275694 0.06864
NM_001843.4(CNTN1):c.803+64T>G rs55976072 0.06842
NM_001843.4(CNTN1):c.61+129A>G rs75970534 0.06576
NM_001843.4(CNTN1):c.95-294G>A rs1372543 0.06078
NM_001843.4(CNTN1):c.400+151A>C rs2304818 0.05430
NM_001843.4(CNTN1):c.2185-219C>G rs76096615 0.05032
NM_001843.4(CNTN1):c.1683+67A>G rs117742571 0.04905
NM_001843.4(CNTN1):c.1964-159C>G rs12819981 0.04248
NM_001843.4(CNTN1):c.2419+45G>T rs56236911 0.04112
NM_001843.4(CNTN1):c.1963+126T>A rs77523605 0.03845
NM_001843.4(CNTN1):c.496+212T>A rs114268774 0.03709
NM_001843.4(CNTN1):c.1110+67G>A rs74587413 0.03642
NM_001843.4(CNTN1):c.1229-92C>T rs35617364 0.03524
NM_001843.4(CNTN1):c.1229-85G>A rs34601389 0.03462
NM_001843.4(CNTN1):c.497-112C>T rs71449788 0.03411
NM_001843.4(CNTN1):c.2823+244G>A rs55639255 0.03287
NM_001843.4(CNTN1):c.61+79A>C rs35684552 0.03260
NM_001843.4(CNTN1):c.-76-325T>G rs12821990 0.03258
NM_001843.4(CNTN1):c.1229-204T>C rs12828796 0.03223
NM_001843.4(CNTN1):c.1380-326G>A rs80155908 0.02801
NM_001843.4(CNTN1):c.2185-344G>C rs61924397 0.02539
NM_001843.4(CNTN1):c.2710+296A>G rs34016463 0.02520
NM_001843.4(CNTN1):c.1380-149C>T rs139915282 0.01599
NM_001843.4(CNTN1):c.1379+73A>G rs114010541 0.01585
NM_001843.4(CNTN1):c.496+181G>A rs57625854 0.01559
NM_001843.4(CNTN1):c.*210A>G rs17129022 0.01402
NM_001843.4(CNTN1):c.61+74G>A rs78150049 0.01377
NM_001843.4(CNTN1):c.1963+96A>G rs140464654 0.01360
NM_001843.4(CNTN1):c.2184+217G>A rs114746486 0.01110
NM_001843.4(CNTN1):c.497-267C>G rs146293518 0.01034
NM_001843.4(CNTN1):c.2823+58A>G rs73126915 0.00995
NM_001843.4(CNTN1):c.61+56G>A rs77033666 0.00969
NM_001843.4(CNTN1):c.62-189C>T rs114816947 0.00968
NM_001843.4(CNTN1):c.227+69C>T rs144175278 0.00791
NM_001843.4(CNTN1):c.2523+257C>T rs186427938 0.00781
NM_001843.4(CNTN1):c.400+287G>C rs150587172 0.00764
NM_001843.4(CNTN1):c.2823+56C>G rs278908 0.00739
NM_001843.4(CNTN1):c.90T>C (p.His30=) rs61748365 0.00707
NM_001843.4(CNTN1):c.207C>T (p.Ala69=) rs7297132 0.00583
NM_001843.4(CNTN1):c.1229-113G>A rs149676914 0.00462
NM_001843.4(CNTN1):c.2524-162T>G rs112047373 0.00422
NM_001843.4(CNTN1):c.2823+184T>C rs189519111 0.00422
NM_001843.4(CNTN1):c.2823+189A>T rs144590249 0.00421
NM_001843.4(CNTN1):c.1111-202G>A rs146501111 0.00406
NM_001843.4(CNTN1):c.2523+51C>T rs188219983 0.00368
NM_001843.4(CNTN1):c.1804+321T>A rs147996272 0.00350
NM_001843.4(CNTN1):c.1228+249T>C rs112835012 0.00335
NM_001843.4(CNTN1):c.986-16del rs113450310 0.00335
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=) rs61759480 0.00215
NM_001843.4(CNTN1):c.1251G>T (p.Met417Ile) rs145510600 0.00213
NM_001843.4(CNTN1):c.1911C>T (p.Tyr637=) rs61759481 0.00138
NM_001843.4(CNTN1):c.2598C>G (p.Ala866=) rs140462332 0.00120
NM_001843.4(CNTN1):c.804-8A>G rs56172264 0.00106
NM_001843.4(CNTN1):c.2523+4C>T rs74076940 0.00091
NM_001843.4(CNTN1):c.2823+5A>G rs148453314 0.00078
NM_001843.4(CNTN1):c.873T>A (p.Ser291=) rs200022020 0.00047
NM_001843.4(CNTN1):c.278T>C (p.Met93Thr) rs142755965 0.00045
NM_001843.4(CNTN1):c.147T>C (p.Asn49=) rs61754100 0.00035
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly) rs138639141 0.00015
NM_001843.4(CNTN1):c.1722G>A (p.Gln574=) rs201122600 0.00014
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln) rs374200408 0.00014
NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr) rs143416044 0.00012
NM_001843.4(CNTN1):c.2687T>C (p.Ile896Thr) rs771657279 0.00008
NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg) rs138121813 0.00006
NM_001843.4(CNTN1):c.2785G>A (p.Val929Ile) rs148239965 0.00006
NM_001843.4(CNTN1):c.3031G>A (p.Gly1011Ser) rs200796487 0.00006
NM_001843.4(CNTN1):c.652A>G (p.Ile218Val) rs752293954 0.00006
NM_001843.4(CNTN1):c.2284C>G (p.Pro762Ala) rs566695601 0.00003
NM_001843.4(CNTN1):c.1051C>T (p.Pro351Ser) rs769193585 0.00002
NM_001843.4(CNTN1):c.882T>C (p.Val294=) rs760650497 0.00002
NM_001843.4(CNTN1):c.2039G>A (p.Arg680His) rs770506056 0.00001
NM_001843.4(CNTN1):c.296T>C (p.Val99Ala) rs780404377 0.00001
NM_001843.4(CNTN1):c.855T>C (p.Thr285=) rs775839275 0.00001
GRCh37/hg19 12q12(chr12:40977062-41361519)x3
NM_001843.4(CNTN1):c.*166G>A rs444927
NM_001843.4(CNTN1):c.-189C>A rs11177830
NM_001843.4(CNTN1):c.-76-51C>G rs80139511
NM_001843.4(CNTN1):c.1229-86dup rs74449088
NM_001843.4(CNTN1):c.1379+114del rs34686634
NM_001843.4(CNTN1):c.1442T>C (p.Ile481Thr) rs745586631
NM_001843.4(CNTN1):c.1508A>T (p.Asp503Val) rs199754941
NM_001843.4(CNTN1):c.1563C>T (p.Asn521=) rs201595623
NM_001843.4(CNTN1):c.1692C>T (p.Ser564=) rs1592323556
NM_001843.4(CNTN1):c.1705C>T (p.Leu569=) rs757948202
NM_001843.4(CNTN1):c.1888A>G (p.Asn630Asp) rs1064795510
NM_001843.4(CNTN1):c.1913C>A (p.Thr638Asn) rs2120374665
NM_001843.4(CNTN1):c.202C>T (p.Arg68Ter) rs753826693
NM_001843.4(CNTN1):c.2046A>T (p.Val682=) rs770172094
NM_001843.4(CNTN1):c.2052C>A (p.Thr684=) rs1375608612
NM_001843.4(CNTN1):c.2113+280dup rs35947533
NM_001843.4(CNTN1):c.2113+294del rs576562218
NM_001843.4(CNTN1):c.2113+309_2113+312del rs533822715
NM_001843.4(CNTN1):c.2419+304_2419+305del rs113449140
NM_001843.4(CNTN1):c.2420-328del rs146697946
NM_001843.4(CNTN1):c.2685G>T (p.Met895Ile) rs1276439439
NM_001843.4(CNTN1):c.2826A>G (p.Val942=) rs371445853
NM_001843.4(CNTN1):c.401-14del rs148387796
NM_001843.4(CNTN1):c.401-8G>T rs575754931
NM_001843.4(CNTN1):c.496+230AT[14] rs138237336
NM_001843.4(CNTN1):c.496+230AT[15] rs138237336
NM_001843.4(CNTN1):c.496+230AT[18] rs138237336
NM_001843.4(CNTN1):c.496+230AT[19] rs138237336
NM_001843.4(CNTN1):c.496+230AT[21] rs138237336
NM_001843.4(CNTN1):c.496+230AT[9] rs138237336
NM_001843.4(CNTN1):c.560G>A (p.Arg187Gln) rs4408370
NM_001843.4(CNTN1):c.644G>A (p.Ser215Asn) rs1555182848
NM_001843.4(CNTN1):c.803+65G>T rs56323985
NM_001843.4(CNTN1):c.895A>G (p.Asn299Asp)
NM_001843.4(CNTN1):c.985+211G>C rs147325714

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