ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His) rs144054353 0.00029
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His) rs201888442 0.00024
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met) rs370719148 0.00014
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069 0.00009
NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His) rs368379003 0.00009
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu) rs531282669 0.00007
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys) rs137923508 0.00004
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338 0.00004
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser) rs762584015 0.00003
NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln) rs780489910 0.00003
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu) rs768565928 0.00003
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile) rs375640580 0.00003
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile) rs776324215 0.00001
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly) rs1326943912 0.00001
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn) rs563617159 0.00001
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp) rs765647487 0.00001
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu) rs773775745 0.00001
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn) rs756654349 0.00001
NM_004369.4(COL6A3):c.1868C>G (p.Pro623Arg)
NM_004369.4(COL6A3):c.2425C>T (p.Pro809Ser)
NM_004369.4(COL6A3):c.2651T>G (p.Val884Gly)
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys) rs774872934
NM_004369.4(COL6A3):c.46T>A (p.Phe16Ile)
NM_004369.4(COL6A3):c.52T>C (p.Ser18Pro)
NM_004369.4(COL6A3):c.5684C>G (p.Ser1895Trp)
NM_004369.4(COL6A3):c.590T>C (p.Met197Thr)
NM_004369.4(COL6A3):c.6270G>T (p.Gln2090His)
NM_004369.4(COL6A3):c.661G>T (p.Val221Leu)
NM_004369.4(COL6A3):c.6769G>T (p.Ala2257Ser)
NM_004369.4(COL6A3):c.7927G>T (p.Ala2643Ser)

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