ClinVar Miner

List of variants in gene COL6A1 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1003-61T>G rs1980981 0.99242
NM_001848.3(COL6A1):c.1776+188T>C rs8126900 0.92707
NM_001848.3(COL6A1):c.1776+164G>A rs73908116 0.91302
NM_001848.3(COL6A1):c.1776+141A>G rs8131632 0.90896
NM_001848.3(COL6A1):c.1525-60A>G rs3737437 0.89527
NM_001848.3(COL6A1):c.1611+217T>C rs4818811 0.88601
NM_001848.3(COL6A1):c.*260A>G rs1053331 0.88428
NM_001848.3(COL6A1):c.1822+88A>G rs7276782 0.88358
NM_001848.3(COL6A1):c.1335+27A>C rs2850173 0.88231
NM_001848.3(COL6A1):c.1777-229G>A rs35900642 0.87805
NM_001848.3(COL6A1):c.1822+185C>T rs7276374 0.87696
NM_001848.3(COL6A1):c.1823-196A>G rs7277078 0.87692
NM_001848.3(COL6A1):c.1776+91C>T rs8131101 0.87067
NM_001848.3(COL6A1):c.98-320dup rs72562356 0.85449
NM_001848.3(COL6A1):c.1336-152G>T rs2850174 0.78788
NM_001848.3(COL6A1):c.1776+174G>A rs8130255 0.76171
NM_001848.3(COL6A1):c.858+188G>C rs2277813 0.68598
NM_001848.3(COL6A1):c.1399-129A>G rs11701583 0.54266
NM_001848.3(COL6A1):c.2434+88C>T rs2236488 0.51956
NM_001848.3(COL6A1):c.858+62C>T rs8129814 0.51564
NM_001848.3(COL6A1):c.1822+80G>A rs7283989 0.51414
NM_001848.3(COL6A1):c.2251-29C>T rs35796750 0.50435
NM_001848.3(COL6A1):c.1399-32T>C rs2839077 0.49659
NM_001848.3(COL6A1):c.1462-36A>G rs2276255 0.35129
NM_001848.3(COL6A1):c.1675-55C>T rs4819179 0.34598
NM_001848.3(COL6A1):c.739-51C>T rs62215498 0.32957
NM_001848.3(COL6A1):c.1957-78G>A rs8131313 0.31839
NM_001848.3(COL6A1):c.2465-72C>T rs59769541 0.31617
NM_001848.3(COL6A1):c.1822+42G>C rs13053065 0.31288
NM_001848.3(COL6A1):c.1740+145G>T rs13048481 0.31167
NM_001848.3(COL6A1):c.1957-82C>T rs8132377 0.31077
NM_001848.3(COL6A1):c.1813+137C>T rs4818812 0.30942
NM_001848.3(COL6A1):c.1822+231G>A rs11700421 0.30100
NM_001848.3(COL6A1):c.1335+116C>T rs2075893 0.29808
NM_001848.3(COL6A1):c.2434+55G>A rs2236487 0.29790
NM_001848.3(COL6A1):c.1776+182_1776+183insA rs796136319 0.26238
NM_001848.3(COL6A1):c.1273-151G>A rs760438 0.23365
NM_001848.3(COL6A1):c.228-140G>C rs3746992 0.19823
NM_001848.3(COL6A1):c.1002+55T>C rs867427345 0.18016
NM_001848.3(COL6A1):c.805-208G>C rs2839076 0.16329
NM_001848.3(COL6A1):c.1273-138G>A rs760439 0.15757
NM_001848.3(COL6A1):c.1576-78G>C rs11700844 0.14347
NM_001848.3(COL6A1):c.98-214C>T rs62215496 0.13611
NM_001848.3(COL6A1):c.1741-51G>A rs75434097 0.13563
NM_001848.3(COL6A1):c.1399-111A>G rs9979532 0.13443
NM_001848.3(COL6A1):c.1119+261G>A rs55726338 0.11645
NM_001848.3(COL6A1):c.1002+43_1002+50del rs774756547 0.09367
NM_001848.3(COL6A1):c.1119+209A>G rs111557860 0.09143
NM_001848.3(COL6A1):c.1119+189T>C rs10154031 0.08142
NM_001848.3(COL6A1):c.1002+77C>T rs536918340 0.06918
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_001848.3(COL6A1):c.428+40G>A rs71324475 0.05102
NM_001848.3(COL6A1):c.1398+120T>C rs116524164 0.03376
NM_001848.3(COL6A1):c.589-57G>A rs138916267 0.02777
NM_001848.3(COL6A1):c.1398+28G>A rs114600249 0.02409
NM_001848.3(COL6A1):c.1399-246C>T rs115807593 0.01905
NM_001848.3(COL6A1):c.1335+185T>C rs116133651 0.01861
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001848.3(COL6A1):c.1740+50C>T rs148205490 0.00926
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_001848.3(COL6A1):c.588+37A>G rs117470181 0.00672
NM_001848.3(COL6A1):c.1119+39C>T rs74982956 0.00527
NM_001848.3(COL6A1):c.777G>A (p.Pro259=) rs61735854 0.00491
NM_001848.3(COL6A1):c.579C>T (p.Pro193=) rs61751027 0.00488
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=) rs116343553 0.00426
NM_001848.3(COL6A1):c.1813+25T>G rs191946565 0.00394
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) rs138976133 0.00134
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
GRCh37/hg19 21q22.3(chr21:47402620-47465205)x3
GRCh37/hg19 21q22.3(chr21:47417303-47426252)x3
GRCh37/hg19 21q22.3(chr21:47421947-47427839)x3
GRCh37/hg19 21q22.3(chr21:47423636-47427839)x1
NM_001848.3(COL6A1):c.1002+145C>T rs78836670
NM_001848.3(COL6A1):c.1002+90del rs145398932
NM_001848.3(COL6A1):c.1399-175_1399-163del rs58559163
NM_001848.3(COL6A1):c.1399-272_1399-210del rs1569518630
NM_001848.3(COL6A1):c.1461+41dup rs3216137
NM_001848.3(COL6A1):c.1612-80dup rs141212516
NM_001848.3(COL6A1):c.1776+107dup rs11464071
NM_001848.3(COL6A1):c.1776+173_1776+174insAGATCATAGGGGGACGTGTGA rs1189768702
NM_001848.3(COL6A1):c.1776+198C>T rs8131227
NM_001848.3(COL6A1):c.1814-106_1814-90del rs58200969
NM_001848.3(COL6A1):c.1814-108_1814-92del rs200069109
NM_001848.3(COL6A1):c.1814-147_1814-140del rs139447078
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1822+45C>G rs7276098
NM_001848.3(COL6A1):c.1822+45C>T rs7276098
NM_001848.3(COL6A1):c.1823-13C>T rs571173076
NM_001848.3(COL6A1):c.1823-199G>T rs146010507
NM_001848.3(COL6A1):c.2464+70C>G rs2236489
NM_001848.3(COL6A1):c.428+213AGAGAC[3] rs199643566
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001848.3(COL6A1):c.804+140del rs66929103
NM_001848.3(COL6A1):c.931-198_931-165del rs771549110
NM_001848.3(COL6A1):c.97+222_97+226dup rs138847222

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