ClinVar Miner

List of variants studied for Bethlem myopathy 1A by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_001848.3(COL6A1):c.97+20G>A rs114178849 0.01230
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032 0.00703
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00540
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_004369.4(COL6A3):c.6592-16A>T rs181698279 0.00026
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr) rs115819851 0.00017
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069 0.00009
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856 0.00008
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965 0.00007
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) rs768434256 0.00003
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743 0.00003
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) rs181264679 0.00001
NM_004369.4(COL6A3):c.709+8C>T rs779535244 0.00001
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) rs1370564126 0.00001
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=) rs2077865473
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) rs199929757
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701

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