ClinVar Miner

List of variants in gene combination COL4A1, COL4A2

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.-277A>C rs7989823 0.63352
NM_001846.4(COL4A2):c.-215C>T rs7990017 0.48885
NM_001846.4(COL4A2):c.99+242A>G rs4773144 0.41807
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) rs9515185 0.36168
NM_001846.4(COL4A2):c.-203T>C rs7991332 0.31576
NM_001846.4(COL4A2):c.-133A>G rs35466678 0.15263
NM_001846.4(COL4A2):c.-101G>A rs528084465 0.00084
NM_001845.6(COL4A1):c.-13C>G rs60069761 0.00026
GRCh37/hg19 13q34(chr13:110771847-111020926)x3
GRCh37/hg19 13q34(chr13:110848498-111132556)x3
GRCh37/hg19 13q34(chr13:110959350-110960146)x0
GRCh37/hg19 13q34(chr13:110959350-110961114)x0
NC_000013.10:g.(?_110822874)_(110960490_?)dup
NM_001845.6(COL4A1):c.-90G>T rs113651836
NM_001846.4(COL4A2):c.-232C>G rs7990009

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