ClinVar Miner

List of variants in gene COL3A1, MIR3606 studied for Ehlers-Danlos syndrome, type 4

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1510-17T>C rs768697971 0.00001
NM_000090.4(COL3A1):c.1456-82_1977+177del
NM_000090.4(COL3A1):c.1510-10C>T
NM_000090.4(COL3A1):c.1510-12T>C
NM_000090.4(COL3A1):c.1510-4T>C rs529479786
NM_000090.4(COL3A1):c.650_1663-83del

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