ClinVar Miner

List of variants reported as benign for myosclerosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74122
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44458
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_001849.4(COL6A2):c.1333-8T>C rs73159701 0.17496
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_001849.4(COL6A2):c.663C>T (p.Pro221=) rs59531343 0.09859
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965 0.09606
NM_001849.4(COL6A2):c.*116T>C rs3087667 0.08255
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_001849.4(COL6A2):c.*158C>T rs11554666 0.06989
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_001849.4(COL6A2):c.*119A>G rs1043962
NM_001849.4(COL6A2):c.1817-3dup rs149954350

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