ClinVar Miner

List of variants in gene COL4A1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg) rs267606744
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) rs113994104
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) rs267606743
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) rs113994105
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu) rs281865426
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) rs113994106
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354

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