ClinVar Miner

List of variants studied for autosomal recessive Alport syndrome by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 18
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GRCh37/hg19 2q36.3(chr2:227942610-227945265)
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys)
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.4(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg)
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg)
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp)
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)
NM_000091.5(COL4A3):c.816dup (p.Pro273fs)
NM_000092.4(COL4A4):c.1320_1369+2del rs1553676221

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