ClinVar Miner

List of variants in gene CSMD1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_033225.6(CSMD1):c.6531G>A (p.Thr2177=) rs898513 0.03218
NM_033225.6(CSMD1):c.3632-9C>G rs17079864 0.02450
NM_033225.6(CSMD1):c.7855+10G>T rs75127450 0.02269
NM_033225.6(CSMD1):c.6753C>T (p.His2251=) rs34074837 0.02196
NM_033225.6(CSMD1):c.6120G>C (p.Met2040Ile) rs6995799 0.01620
NM_033225.6(CSMD1):c.5280C>T (p.Gly1760=) rs34652555 0.01537
NM_033225.6(CSMD1):c.2892T>C (p.His964=) rs111736379 0.01274
NM_033225.6(CSMD1):c.2811G>C (p.Lys937Asn) rs115021133 0.01092
NM_033225.6(CSMD1):c.1222+7C>T rs74445968 0.00959
NM_033225.6(CSMD1):c.1225A>C (p.Arg409=) rs146006696 0.00794
NM_033225.6(CSMD1):c.4867+10C>T rs142542725 0.00720
NM_033225.6(CSMD1):c.932-7C>T rs185199387 0.00676
NM_033225.6(CSMD1):c.3199C>T (p.Leu1067=) rs117715350 0.00613
NM_033225.6(CSMD1):c.4638C>T (p.Ser1546=) rs61740651 0.00593
NM_033225.6(CSMD1):c.3087G>A (p.Ser1029=) rs148290208 0.00550
NM_033225.6(CSMD1):c.5583T>C (p.Gly1861=) rs142880495 0.00523
NM_033225.6(CSMD1):c.3534T>G (p.Leu1178=) rs147764737 0.00496
NM_033225.6(CSMD1):c.6081C>T (p.Phe2027=) rs112571277 0.00480
NM_033225.6(CSMD1):c.2203T>G (p.Ser735Ala) rs115440730 0.00454
NM_033225.6(CSMD1):c.4220G>C (p.Arg1407Thr) rs147245019 0.00397
NM_033225.6(CSMD1):c.123C>T (p.Gly41=) rs35620271 0.00378
NM_033225.6(CSMD1):c.1623C>T (p.Ser541=) rs375577340 0.00352
NM_033225.6(CSMD1):c.1662G>A (p.Pro554=) rs182017822 0.00350
NM_033225.6(CSMD1):c.357T>G (p.Thr119=) rs151160104 0.00311
NM_033225.6(CSMD1):c.1223-7T>C rs138793470 0.00307
NM_033225.6(CSMD1):c.1223-3C>T rs184791554 0.00297
NM_033225.6(CSMD1):c.2244C>T (p.Ser748=) rs146267457 0.00275
NM_033225.6(CSMD1):c.2071+9G>A rs143074059 0.00255
NM_033225.6(CSMD1):c.2520C>T (p.Thr840=) rs201401389 0.00215
NM_033225.6(CSMD1):c.1098-4T>C rs117264731 0.00205
NM_033225.6(CSMD1):c.1737C>T (p.Ser579=) rs200980155 0.00180
NM_033225.6(CSMD1):c.6978T>G (p.Thr2326=) rs369171021 0.00179
NM_033225.6(CSMD1):c.7327A>G (p.Ile2443Val) rs80307148 0.00171
NM_033225.6(CSMD1):c.818+10G>C rs182868860 0.00159
NM_033225.6(CSMD1):c.5344C>A (p.Gln1782Lys) rs202157459 0.00140
NM_033225.6(CSMD1):c.2580C>T (p.Leu860=) rs183456945 0.00133
NM_033225.6(CSMD1):c.1581T>C (p.Cys527=) rs190257069 0.00113
NM_033225.6(CSMD1):c.5194+6C>T rs187732904 0.00074
NM_033225.6(CSMD1):c.3033C>T (p.Gly1011=) rs140611844 0.00073
NM_033225.6(CSMD1):c.4044G>C (p.Trp1348Cys) rs149028484 0.00070
NM_033225.6(CSMD1):c.1137C>T (p.Tyr379=) rs377719634 0.00064
NM_033225.6(CSMD1):c.563G>A (p.Ser188Asn) rs36042022 0.00063
NM_033225.6(CSMD1):c.3891G>A (p.Pro1297=) rs191537593 0.00061
NM_033225.6(CSMD1):c.5930C>T (p.Thr1977Met) rs201704028 0.00058
NM_033225.6(CSMD1):c.4056C>T (p.Ala1352=) rs137933937 0.00057
NM_033225.6(CSMD1):c.7521C>T (p.Thr2507=) rs367730492 0.00057
NM_033225.6(CSMD1):c.5703T>C (p.Ala1901=) rs771823696 0.00026
NM_033225.6(CSMD1):c.2070C>G (p.Thr690=) rs750556000 0.00021
NM_033225.6(CSMD1):c.1809A>G (p.Glu603=) rs200038564 0.00020
NM_033225.6(CSMD1):c.384G>A (p.Val128=) rs1367655639 0.00013
NM_033225.6(CSMD1):c.6609-9C>G rs1025378344 0.00006
NM_033225.6(CSMD1):c.6696C>G (p.Val2232=) rs776317906 0.00006
NM_033225.6(CSMD1):c.1605T>C (p.Tyr535=) rs1178546698 0.00001
NM_033225.6(CSMD1):c.2784T>C (p.Ala928=) rs774266328 0.00001
NM_033225.6(CSMD1):c.4053C>T (p.Ser1351=) rs779320746 0.00001
GRCh37/hg19 8p23.2(chr8:2231762-3922120)x3
GRCh37/hg19 8p23.2(chr8:2295883-3142724)x3
GRCh37/hg19 8p23.2(chr8:2321811-2925850)x3
GRCh37/hg19 8p23.2(chr8:2324136-2919891)x3
GRCh37/hg19 8p23.2(chr8:2324955-2916911)x3
GRCh37/hg19 8p23.2(chr8:2330753-3308092)x3
GRCh37/hg19 8p23.2(chr8:2330753-3908191)x3
GRCh37/hg19 8p23.2(chr8:2340120-2920183)x3
GRCh37/hg19 8p23.2(chr8:2343544-2802745)x3
GRCh37/hg19 8p23.2(chr8:2347502-3879883)x3
GRCh37/hg19 8p23.2(chr8:2347851-2920183)x3
GRCh37/hg19 8p23.2(chr8:2397864-2865980)x1
GRCh37/hg19 8p23.2(chr8:2450929-3140878)x3
GRCh37/hg19 8p23.2(chr8:2453130-3128174)x3
GRCh37/hg19 8p23.2(chr8:2667865-2971455)x3
GRCh37/hg19 8p23.2(chr8:2784417-2984670)x3
GRCh37/hg19 8p23.2(chr8:2784418-4130320)x3
GRCh37/hg19 8p23.2(chr8:2796107-3267129)x3
GRCh37/hg19 8p23.2(chr8:2858453-4046658)x1
GRCh37/hg19 8p23.2(chr8:2887210-2890158)x1
GRCh37/hg19 8p23.2(chr8:2887210-2890763)x1
GRCh37/hg19 8p23.2(chr8:2887432-2890763)x1
GRCh37/hg19 8p23.2(chr8:2887432-2891804)x1
GRCh37/hg19 8p23.2(chr8:2887904-2891804)x1
GRCh37/hg19 8p23.2(chr8:3020608-3235163)x1
GRCh37/hg19 8p23.2(chr8:3025189-3506725)x3
GRCh37/hg19 8p23.2(chr8:3025189-3509893)x3
GRCh37/hg19 8p23.2(chr8:3025264-3509878)x3
GRCh37/hg19 8p23.2(chr8:3082365-3140878)x1
GRCh37/hg19 8p23.2(chr8:3153093-3164019)x3
GRCh37/hg19 8p23.2(chr8:3161195-3265217)x1
GRCh37/hg19 8p23.2(chr8:3332235-3428314)x1
GRCh37/hg19 8p23.2(chr8:3370480-3461712)x1
GRCh37/hg19 8p23.2(chr8:3373476-3474348)x1
GRCh37/hg19 8p23.2(chr8:3499811-3523100)x1
GRCh37/hg19 8p23.2(chr8:3548368-3685567)x1
GRCh37/hg19 8p23.2(chr8:3637553-4380668)x3
GRCh37/hg19 8p23.2(chr8:3686944-5951565)x3
GRCh37/hg19 8p23.2(chr8:3699688-6075093)x3
GRCh37/hg19 8p23.2(chr8:3770990-4363239)x1
GRCh37/hg19 8p23.2(chr8:3836835-4011218)x1
GRCh37/hg19 8p23.2(chr8:3865670-3875497)x1
GRCh37/hg19 8p23.2(chr8:3867513-3875497)x1
GRCh37/hg19 8p23.2(chr8:3869918-3952096)x1
GRCh37/hg19 8p23.2(chr8:3875222-4790362)x1
GRCh37/hg19 8p23.2(chr8:3894139-4298116)x3
GRCh37/hg19 8p23.2(chr8:3923848-6068396)x3
GRCh37/hg19 8p23.2(chr8:3928521-3975865)x1
GRCh37/hg19 8p23.2(chr8:3942747-4032622)x1
GRCh37/hg19 8p23.2(chr8:3980158-4017692)x1
GRCh37/hg19 8p23.2(chr8:3997289-4003808)x1
GRCh37/hg19 8p23.2(chr8:4090449-4282088)x1
GRCh37/hg19 8p23.2(chr8:4090790-4186554)x1
GRCh37/hg19 8p23.2(chr8:4109163-4195287)x1
GRCh37/hg19 8p23.2(chr8:4117538-4123595)x3
GRCh37/hg19 8p23.2(chr8:4117538-4124105)x3
GRCh37/hg19 8p23.2(chr8:4117538-4130688)x3
GRCh37/hg19 8p23.2(chr8:4117538-4130911)x3
GRCh37/hg19 8p23.2(chr8:4122628-4125066)x0
GRCh37/hg19 8p23.2(chr8:4122961-4126540)x3
GRCh37/hg19 8p23.2(chr8:4122961-4130911)x3
GRCh37/hg19 8p23.2(chr8:4205481-4277719)x1
GRCh37/hg19 8p23.2(chr8:4229780-4339998)x1
GRCh37/hg19 8p23.2(chr8:4247642-4311968)x1
GRCh37/hg19 8p23.2(chr8:4257817-4346334)x1
GRCh37/hg19 8p23.2(chr8:4314917-4402031)x1
GRCh37/hg19 8p23.2(chr8:4315838-4384398)x1
GRCh37/hg19 8p23.2(chr8:4388614-4548121)x1
GRCh37/hg19 8p23.2(chr8:4416645-6149421)x3
GRCh37/hg19 8p23.2(chr8:4468542-4485724)x1
GRCh37/hg19 8p23.2(chr8:4473824-4485724)x1
GRCh37/hg19 8p23.2(chr8:4497742-4630806)x1
GRCh37/hg19 8p23.2(chr8:4564077-4660585)x1
GRCh37/hg19 8p23.2(chr8:4627197-4665649)x1
GRCh37/hg19 8p23.2(chr8:4710970-4755990)x1
GRCh37/hg19 8p23.2(chr8:4710970-4770880)x1
GRCh37/hg19 8p23.2(chr8:4732666-5012510)x1
GRCh37/hg19 8p23.2(chr8:4762586-5131122)x3
GRCh37/hg19 8p23.2(chr8:4762586-5135829)x3
GRCh37/hg19 8p23.2(chr8:4762669-5138651)x3
GRCh37/hg19 8p23.3-23.2(chr8:2164004-3265217)x1
GRCh37/hg19 8p23.3-23.2(chr8:2179549-3146596)x3
GRCh37/hg19 8p23.3-23.2(chr8:2190479-3146596)x3
NM_033225.6(CSMD1):c.1029A>G (p.Ala343=) rs1323596403
NM_033225.6(CSMD1):c.1284G>A (p.Pro428=)
NM_033225.6(CSMD1):c.1615A>C (p.Thr539Pro)
NM_033225.6(CSMD1):c.1681G>C (p.Gly561Arg)
NM_033225.6(CSMD1):c.186C>A (p.Ile62=)
NM_033225.6(CSMD1):c.1916C>T (p.Ala639Val)
NM_033225.6(CSMD1):c.1951C>T (p.Leu651=) rs761287790
NM_033225.6(CSMD1):c.2073A>C (p.Thr691=)
NM_033225.6(CSMD1):c.2108C>G (p.Pro703Arg)
NM_033225.6(CSMD1):c.2280A>G (p.Gly760=) rs544402145
NM_033225.6(CSMD1):c.2292G>T (p.Ala764=) rs374326454
NM_033225.6(CSMD1):c.2298C>T (p.Ser766=)
NM_033225.6(CSMD1):c.2335A>C (p.Lys779Gln)
NM_033225.6(CSMD1):c.2343T>C (p.Ser781=)
NM_033225.6(CSMD1):c.2376A>G (p.Pro792=)
NM_033225.6(CSMD1):c.2377G>C (p.Gly793Arg)
NM_033225.6(CSMD1):c.2452C>T (p.Pro818Ser)
NM_033225.6(CSMD1):c.2475C>T (p.Ile825=) rs774181273
NM_033225.6(CSMD1):c.2541G>A (p.Leu847=) rs3802303
NM_033225.6(CSMD1):c.2681C>T (p.Thr894Ile)
NM_033225.6(CSMD1):c.2900-2A>C
NM_033225.6(CSMD1):c.2986G>A (p.Val996Ile)
NM_033225.6(CSMD1):c.3108A>G (p.Thr1036=) rs4875703
NM_033225.6(CSMD1):c.3169A>G (p.Ile1057Val)
NM_033225.6(CSMD1):c.3232G>C (p.Glu1078Gln)
NM_033225.6(CSMD1):c.3643G>T (p.Val1215Leu) rs73657807
NM_033225.6(CSMD1):c.3678C>T (p.Gly1226=) rs757040661
NM_033225.6(CSMD1):c.3708C>G (p.Thr1236=) rs141170475
NM_033225.6(CSMD1):c.3708C>T (p.Thr1236=) rs141170475
NM_033225.6(CSMD1):c.3768G>A (p.Leu1256=)
NM_033225.6(CSMD1):c.3779G>C (p.Ser1260Thr)
NM_033225.6(CSMD1):c.3795G>T (p.Val1265=)
NM_033225.6(CSMD1):c.3825G>A (p.Ala1275=)
NM_033225.6(CSMD1):c.3888T>G (p.Ala1296=) rs1584970009
NM_033225.6(CSMD1):c.3975G>A (p.Thr1325=)
NM_033225.6(CSMD1):c.4236C>G (p.Thr1412=) rs371300012
NM_033225.6(CSMD1):c.4485-3T>C
NM_033225.6(CSMD1):c.490G>A (p.Gly164Arg)
NM_033225.6(CSMD1):c.5031G>C (p.Leu1677Phe)
NM_033225.6(CSMD1):c.5055T>C (p.His1685=)
NM_033225.6(CSMD1):c.516C>T (p.Leu172=)
NM_033225.6(CSMD1):c.536G>T (p.Gly179Val)
NM_033225.6(CSMD1):c.543C>T (p.Ala181=)
NM_033225.6(CSMD1):c.5463A>T (p.Pro1821=) rs1585601497
NM_033225.6(CSMD1):c.5498T>C (p.Ile1833Thr)
NM_033225.6(CSMD1):c.5668C>G (p.Leu1890Val)
NM_033225.6(CSMD1):c.5685C>T (p.Asp1895=) rs1585575639
NM_033225.6(CSMD1):c.5781C>G (p.Ile1927Met) rs35444669
NM_033225.6(CSMD1):c.579A>T (p.Ala193=) rs371163239
NM_033225.6(CSMD1):c.5829C>T (p.Pro1943=)
NM_033225.6(CSMD1):c.582G>A (p.Ser194=) rs377756447
NM_033225.6(CSMD1):c.5904C>G (p.Pro1968=)
NM_033225.6(CSMD1):c.6029A>G (p.Tyr2010Cys)
NM_033225.6(CSMD1):c.6063C>G (p.Thr2021=)
NM_033225.6(CSMD1):c.6063C>T (p.Thr2021=) rs374372985
NM_033225.6(CSMD1):c.6173A>T (p.His2058Leu)
NM_033225.6(CSMD1):c.6285T>A (p.Asn2095Lys) rs1424949859
NM_033225.6(CSMD1):c.6343C>G (p.Pro2115Ala) rs865819789
NM_033225.6(CSMD1):c.6427G>A (p.Asp2143Asn)
NM_033225.6(CSMD1):c.6523C>T (p.Leu2175Phe)
NM_033225.6(CSMD1):c.6610G>A (p.Asp2204Asn)
NM_033225.6(CSMD1):c.6630A>G (p.Ser2210=) rs1585370862
NM_033225.6(CSMD1):c.677C>G (p.Ser226Ter)
NM_033225.6(CSMD1):c.684C>T (p.Tyr228=)
NM_033225.6(CSMD1):c.7212G>C (p.Arg2404Ser)
NM_033225.6(CSMD1):c.735C>G (p.Thr245=)
NM_033225.6(CSMD1):c.7464A>G (p.Pro2488=)
NM_033225.6(CSMD1):c.7491C>T (p.Ile2497=)
NM_033225.6(CSMD1):c.7821G>A (p.Thr2607=)

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