ClinVar Miner

List of variants reported as likely benign for autosomal recessive Alport syndrome by Counsyl

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000091.4(COL4A3):c.325-18G>T rs777117192
NM_000092.4(COL4A4):c.3978A>G (p.Pro1326=) rs780675797
NM_000092.4(COL4A4):c.3984A>T (p.Gly1328=) rs750748339
NM_000092.4(COL4A4):c.4038T>C (p.Gly1346=) rs565940301
NM_000092.4(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041
NM_000092.4(COL4A4):c.4081+15T>C rs1356475870
NM_000092.4(COL4A4):c.4081+22A>C rs1553623967
NM_000092.4(COL4A4):c.4081+22A>G rs1553623967
NM_000092.4(COL4A4):c.4081+7T>C rs779775976
NM_000092.4(COL4A4):c.4091-323A>G rs774221440
NM_000092.4(COL4A4):c.4091-330T>C rs774439386
NM_000092.4(COL4A4):c.4091-336C>T rs925971110
NM_000092.4(COL4A4):c.4091-346A>G rs753906137
NM_000092.4(COL4A4):c.4091-348T>C rs1553620812
NM_000092.4(COL4A4):c.4091-349G>A rs1434118080
NM_000092.4(COL4A4):c.4091-356_4091-355dup rs1553620826

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