ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome type 7A by Illumina Laboratory Services, Illumina

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.-247T>G rs71483234 0.99656
NM_000093.5(COL5A1):c.*2395G>T rs4504708 0.76943
NM_000093.5(COL5A1):c.*83C>T rs13946 0.76018
NM_000093.5(COL5A1):c.*1125A>T rs1134170 0.66610
NM_000093.5(COL5A1):c.*2501T>C rs3128575 0.63348
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
NM_000093.5(COL5A1):c.*267C>T rs12722 0.43648
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_000093.5(COL5A1):c.*894T>C rs11103544 0.20603
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000093.5(COL5A1):c.*1086ATCT[1] rs16399
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.*870_*873dup rs10628678
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560

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