ClinVar Miner

List of variants reported as not provided for Bethlem myopathy 1A

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.*56T>G rs148337125 0.01837
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00066
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln) rs201227573 0.00004
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys) rs200167715 0.00002
NM_001849.4(COL6A2):c.2977C>T (p.Arg993Cys) rs532656197 0.00002
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met) rs541703064 0.00002
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 0.00001
NM_001848.3(COL6A1):c.1002+6_1002+88del rs1556425727
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+5G>A rs886044511
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu) rs1439633596
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter) rs121912942
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe) rs111630733
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr) rs1574725167
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe) rs2106349155
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6210+5G>A rs886044593
NM_004369.4(COL6A3):c.6354+1G>A rs886042883

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