ClinVar Miner

List of variants in gene COL5A2 reported as likely benign for Connective tissue disorder

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Total variants: 18
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NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.150C>T (p.Asn50=) rs1559108847
NM_000393.5(COL5A2):c.1618-19C>G rs189970491
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2554-5T>C rs373495598
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3364-17C>T rs201720941
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.5(COL5A2):c.567+17G>T rs780672109

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