ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance by Blueprint Genetics,

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Total variants: 19
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HGVS dbSNP
NM_000393.3(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744
NM_000393.3(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492
NM_000393.3(COL5A2):c.407C>T (p.Pro136Leu) rs863223502
NM_000393.4(COL5A2):c.1693G>C (p.Glu565Gln) rs730880066
NM_000393.4(COL5A2):c.271G>C (p.Glu91Gln) rs730880065
NM_000393.4(COL5A2):c.2795T>C (p.Leu932Pro) rs730880067
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.4(COL5A2):c.430G>A (p.Gly144Arg) rs869025375
NM_000393.4(COL5A2):c.463C>T (p.Arg155Cys) rs767252151
NM_000393.4(COL5A2):c.989G>A (p.Gly330Asp) rs753514566
NM_000393.5(COL5A2):c.1458G>A (p.Gly486=)
NM_000393.5(COL5A2):c.2494A>C (p.Asn832His)
NM_000393.5(COL5A2):c.2970G>A (p.Gly990=)
NM_000393.5(COL5A2):c.3109C>T (p.Pro1037Ser)
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val)
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val)
NM_000393.5(COL5A2):c.4106G>A (p.Gly1369Glu)
NM_000393.5(COL5A2):c.4114-14C>G

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