ClinVar Miner

List of variants in gene COL6A1 reported by Athena Diagnostics Inc

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.60426
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His) rs1053312 0.32867
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496 0.15479
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745 0.00065
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=) rs139914666 0.00002
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn) rs747665716 0.00002
NM_001848.3(COL6A1):c.1525-9C>T rs768508076 0.00001
NM_001848.3(COL6A1):c.680C>T (p.Ala227Val) rs770597799 0.00001
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.97+6T>G rs1569517559

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