ClinVar Miner

List of variants in gene COL5A2 reported as not provided by GenomeConnect, ClinGen

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Gene type:
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Total variants: 5
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NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp) rs1449512324
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366

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