ClinVar Miner

List of variants in gene COL1A2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000089.4(COL1A2):c.582T>G (p.Ala194=) rs144540908 0.00113
NM_000089.4(COL1A2):c.2754C>T (p.Asn918=) rs375719762 0.00020
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=) rs765470622 0.00019
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=) rs745413783 0.00010
NM_000089.4(COL1A2):c.1086G>A (p.Glu362=) rs200284501 0.00006
NM_000089.4(COL1A2):c.1521C>T (p.Asn507=) rs747938841 0.00005
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro) rs767399660 0.00004
NM_000089.4(COL1A2):c.2622T>C (p.Gly874=) rs769128071 0.00001
NM_000089.4(COL1A2):c.3414T>C (p.Thr1138=) rs757889815 0.00001
NM_000089.4(COL1A2):c.60A>C (p.Ala20=) rs779022418 0.00001
NM_000089.4(COL1A2):c.927G>A (p.Lys309=) rs746402161 0.00001
NM_000089.4(COL1A2):c.-5T>C
NM_000089.4(COL1A2):c.1434C>A (p.Gly478=) rs756412829
NM_000089.4(COL1A2):c.153C>A (p.Gly51=) rs2115860373
NM_000089.4(COL1A2):c.1743C>T (p.Leu581=)
NM_000089.4(COL1A2):c.2097T>G (p.Ala699=)
NM_000089.4(COL1A2):c.282C>T (p.Gly94=) rs992225434
NM_000089.4(COL1A2):c.588T>C (p.Gly196=) rs1584316971

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