ClinVar Miner

List of variants in gene COL5A2 reported by Blueprint Genetics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151 0.00003
NM_000393.5(COL5A2):c.4114-14C>G rs777751790 0.00002
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=) rs144540534 0.00001
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744 0.00001
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492 0.00001
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.5(COL5A2):c.2494A>C (p.Asn832His) rs1576496167
NM_000393.5(COL5A2):c.271G>C (p.Glu91Gln) rs730880065
NM_000393.5(COL5A2):c.2795T>C (p.Leu932Pro) rs730880067
NM_000393.5(COL5A2):c.2970G>A (p.Gly990=) rs933589600
NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser) rs1576493048
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val) rs772344964
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu) rs759631023
NM_000393.5(COL5A2):c.430G>A (p.Gly144Arg) rs869025375
NM_000393.5(COL5A2):c.989G>A (p.Gly330Asp) rs753514566

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