ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance for not specified

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884 0.00009
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168 0.00006
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu) rs189320512 0.00003
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly) rs555111281 0.00002
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
NM_000393.5(COL5A2):c.1563+5A>G rs777118100 0.00001
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490 0.00001
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468 0.00001
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val) rs763462242 0.00001
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg) rs754932150 0.00001
NM_000393.5(COL5A2):c.690+17T>C rs1171215082 0.00001
GRCh37/hg19 2q32.2(chr2:189895110-189961917)
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
NM_000393.5(COL5A2):c.1534G>A (p.Val512Ile) rs1022068246
NM_000393.5(COL5A2):c.1555G>A (p.Gly519Arg)
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser) rs1553515522
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
NM_000393.5(COL5A2):c.1977+4T>C rs1686064895
NM_000393.5(COL5A2):c.2055_2057delinsAGG (p.Pro686Gly) rs1064795111
NM_000393.5(COL5A2):c.217A>G (p.Lys73Glu)
NM_000393.5(COL5A2):c.2189A>T (p.Glu730Val)
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=) rs774936724
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601
NM_000393.5(COL5A2):c.3322C>A (p.Pro1108Thr)
NM_000393.5(COL5A2):c.3598G>A (p.Gly1200Ser) rs1057518566
NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)

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