ClinVar Miner

List of variants in gene COL1A1 reported as likely benign for not provided

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Total variants: 23
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HGVS dbSNP
NC_000017.11:g.50192546_50192557del
NM_000088.3(COL1A1):c.1002+8T>C
NM_000088.3(COL1A1):c.1354-52G>C
NM_000088.3(COL1A1):c.1768-60C>T
NM_000088.3(COL1A1):c.1822-57G>A
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2830-43C>T
NM_000088.3(COL1A1):c.3046-8_3046-5dup rs138425306
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203
NM_000088.3(COL1A1):c.3369+62C>T
NM_000088.3(COL1A1):c.3424-43C>T
NM_000088.3(COL1A1):c.3732C>T (p.Asn1244=)
NM_000088.3(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681
NM_000088.3(COL1A1):c.3978C>T (p.Phe1326=)
NM_000088.3(COL1A1):c.3993C>T (p.Thr1331=)
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.471+44T>C
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.804+103G>A
NM_000088.3(COL1A1):c.903+29G>T
NM_000088.3:c.1002+10G>T
NM_000088.3:c.299-9G>T
NM_000088.3:c.3815-12G>T

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