ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance by GeneDx

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp) rs138002006 0.00089
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp) rs142059751 0.00026
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His) rs150903058 0.00021
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly) rs143040168 0.00018
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.8359-17T>A rs200207978 0.00013
NM_000094.4(COL7A1):c.4780C>T (p.Arg1594Trp) rs267599859 0.00012
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His) rs201432371 0.00008
NM_000094.4(COL7A1):c.5339G>A (p.Arg1780Gln) rs765367177 0.00005
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
NM_000094.4(COL7A1):c.1202G>T (p.Arg401Leu) rs757929353 0.00003
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His) rs758740269 0.00003
NM_000094.4(COL7A1):c.4228C>T (p.Pro1410Ser) rs778098950 0.00002
NM_000094.4(COL7A1):c.4899+31G>A rs370500985 0.00001
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe) rs575575729 0.00001
NM_000094.4(COL7A1):c.7204G>A (p.Val2402Ile) rs761576147 0.00001
NM_000094.4(COL7A1):c.2252T>A (p.Val751Glu) rs2107772444
NM_000094.4(COL7A1):c.2360C>T (p.Ala787Val) rs2107769020
NM_000094.4(COL7A1):c.2440+3A>G
NM_000094.4(COL7A1):c.2644T>C (p.Ser882Pro) rs2045438463
NM_000094.4(COL7A1):c.2729G>C (p.Arg910Pro) rs373718618
NM_000094.4(COL7A1):c.276C>A (p.Phe92Leu) rs746563255
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys) rs143979792
NM_000094.4(COL7A1):c.3103G>A (p.Val1035Met)
NM_000094.4(COL7A1):c.4057G>A (p.Gly1353Arg)
NM_000094.4(COL7A1):c.4744C>T (p.Pro1582Ser)
NM_000094.4(COL7A1):c.5476C>T (p.Pro1826Ser) rs2107692007
NM_000094.4(COL7A1):c.5532+4A>G rs2107690960
NM_000094.4(COL7A1):c.5609G>A (p.Arg1870His)
NM_000094.4(COL7A1):c.6180+23A>T rs1553854648
NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=) rs1315644130
NM_000094.4(COL7A1):c.7168G>T (p.Asp2390Tyr)
NM_000094.4(COL7A1):c.8266C>T (p.Pro2756Ser) rs755546809

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