ClinVar Miner

List of variants in gene COL5A2 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 5
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HGVS dbSNP
NM_000393.4(COL5A2):c.1257+5G>C rs1553515867
NM_000393.4(COL5A2):c.2391+5G>A rs1553514799
NM_000393.4(COL5A2):c.389G>A (p.Arg130His) rs377331666
NM_000393.4(COL5A2):c.403-3T>C rs369733690
NM_000393.4(COL5A2):c.4374C>T (p.Gly1458=) rs1553512315

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