ClinVar Miner

List of variants in gene COL1A2 reported as likely benign for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000089.3(COL1A2):c.138A>C (p.Pro46=) rs148639088
NM_000089.3(COL1A2):c.1710A>T (p.Pro570=) rs373341681
NM_000089.3(COL1A2):c.1719+7A>T rs1554396853
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.2133+8A>C rs1554397570
NM_000089.3(COL1A2):c.2163C>T (p.Gly721=) rs150670521
NM_000089.3(COL1A2):c.2313C>T (p.Pro771=) rs144837722
NM_000089.3(COL1A2):c.2424T>C (p.Gly808=) rs766541855
NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2673+10T>A rs747098214
NM_000089.3(COL1A2):c.2754C>T (p.Asn918=) rs375719762
NM_000089.3(COL1A2):c.2796C>T (p.Asn932=) rs757671800
NM_000089.3(COL1A2):c.2957C>T (p.Pro986Leu) rs768171831
NM_000089.3(COL1A2):c.3102C>T (p.Ile1034=) rs768455635
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.3792C>T (p.Ala1264=) rs745413783
NM_000089.3(COL1A2):c.70+8C>T rs982206007
NM_000089.3(COL1A2):c.808G>A (p.Val270Ile) rs368468
NM_000089.3(COL1A2):c.888T>G (p.Pro296=) rs1554396039

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