ClinVar Miner

List of variants in gene COL4A1 reported as uncertain significance for not specified

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) rs375318302 0.00021
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) rs376673751 0.00006
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met) rs779139113 0.00002
NM_001845.6(COL4A1):c.1990+7T>C rs773725275 0.00001
NM_001845.6(COL4A1):c.4388G>A (p.Gly1463Glu) rs1057518459 0.00001
NM_001845.6(COL4A1):c.553-10T>C rs370673476 0.00001
NM_001845.6(COL4A1):c.1120+3G>A
NM_001845.6(COL4A1):c.1277G>C (p.Gly426Ala) rs1594572151
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
NM_001845.6(COL4A1):c.1819G>C (p.Gly607Arg) rs1555304112
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) rs146091004
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu) rs146134172
NM_001845.6(COL4A1):c.3325+8A>C
NM_001845.6(COL4A1):c.3556+16T>A
NM_001845.6(COL4A1):c.4727C>T (p.Ser1576Leu)
NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr) rs794727751

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