ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance for Connective tissue disorder

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Total variants: 11
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HGVS dbSNP
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
NM_000393.5(COL5A2):c.1717-3C>T rs760304144
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser) rs1244308550
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn) rs754751410
NM_000393.5(COL5A2):c.3201+14C>T rs368713290
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223

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