ClinVar Miner

List of variants in gene CSMD1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_033225.6(CSMD1):c.1662G>A (p.Pro554=) rs182017822 0.00350
NM_033225.6(CSMD1):c.1223-3C>T rs184791554 0.00297
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.818+10G>C rs182868860 0.00159
NM_033225.6(CSMD1):c.5344C>A (p.Gln1782Lys) rs202157459 0.00140
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.4044G>C (p.Trp1348Cys) rs149028484 0.00070
NM_033225.6(CSMD1):c.3891G>A (p.Pro1297=) rs191537593 0.00061
NM_033225.6(CSMD1):c.4056C>T (p.Ala1352=) rs137933937 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.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(chr8:2784417-2984670)x3
GRCh37/hg19 8p23.2(chr8:3699688-6075093)x3
GRCh37/hg19 8p23.2(chr8:3923848-6068396)x3
GRCh37/hg19 8p23.2(chr8:4416645-6149421)x3
NM_033225.6(CSMD1):c.1029A>G (p.Ala343=) rs1323596403
NM_033225.6(CSMD1):c.1098-8C>T
NM_033225.6(CSMD1):c.1223-5T>C
NM_033225.6(CSMD1):c.1284G>A (p.Pro428=)
NM_033225.6(CSMD1):c.1951C>T (p.Leu651=) rs761287790
NM_033225.6(CSMD1):c.2073A>C (p.Thr691=)
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.2376A>G (p.Pro792=)
NM_033225.6(CSMD1):c.2475C>T (p.Ile825=) rs774181273
NM_033225.6(CSMD1):c.2681C>T (p.Thr894Ile)
NM_033225.6(CSMD1):c.3169A>G (p.Ile1057Val)
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.3795G>T (p.Val1265=)
NM_033225.6(CSMD1):c.3888T>G (p.Ala1296=) rs1584970009
NM_033225.6(CSMD1):c.3975G>A (p.Thr1325=)
NM_033225.6(CSMD1):c.4014G>A (p.Pro1338=)
NM_033225.6(CSMD1):c.4236C>G (p.Thr1412=) rs371300012
NM_033225.6(CSMD1):c.4485-3T>C
NM_033225.6(CSMD1):c.5055T>C (p.His1685=)
NM_033225.6(CSMD1):c.5463A>T (p.Pro1821=) rs1585601497
NM_033225.6(CSMD1):c.5685C>T (p.Asp1895=) rs1585575639
NM_033225.6(CSMD1):c.579A>T (p.Ala193=) rs371163239
NM_033225.6(CSMD1):c.582G>A (p.Ser194=) rs377756447
NM_033225.6(CSMD1):c.5904C>G (p.Pro1968=)
NM_033225.6(CSMD1):c.6063C>G (p.Thr2021=)
NM_033225.6(CSMD1):c.6063C>T (p.Thr2021=) rs374372985
NM_033225.6(CSMD1):c.6630A>G (p.Ser2210=) rs1585370862
NM_033225.6(CSMD1):c.684C>T (p.Tyr228=)
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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