ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4645-112A>T rs3128599 0.85666
NM_000093.5(COL5A1):c.4645-111T>G rs3124936 0.85662
NM_000093.5(COL5A1):c.*83C>T rs13946 0.76018
NM_000093.5(COL5A1):c.4699-219A>G rs3128602 0.75035
NM_000093.5(COL5A1):c.4955-28T>C rs7868111 0.71059
NM_000093.5(COL5A1):c.5067+119C>T rs4842172 0.69021
NM_000093.5(COL5A1):c.4608+31T>C rs9697186 0.65324
NM_000093.5(COL5A1):c.4554+321T>C rs4842171 0.55702
NM_000093.5(COL5A1):c.5136+280G>A rs3128578 0.55167
NM_000093.5(COL5A1):c.4609-278G>C rs35328624 0.54579
NM_000093.5(COL5A1):c.4955-258C>T rs9409997 0.51462
NM_000093.5(COL5A1):c.4955-259C>A rs9409996 0.50392
NM_000093.5(COL5A1):c.*267C>T rs12722 0.43648
NM_000093.5(COL5A1):c.4609-269G>A rs10657539 0.41039
NM_000093.5(COL5A1):c.5068-279C>A rs55906519 0.32438
NM_000093.5(COL5A1):c.5068-177C>A rs12353380 0.32178
NM_000093.5(COL5A1):c.4698+135C>T rs3128601 0.28726
NM_000093.5(COL5A1):c.5136+421C>T rs4842174 0.23337
NM_000093.5(COL5A1):c.4955-311C>T rs56195655 0.20073
NM_000093.5(COL5A1):c.4609-278del rs66657532 0.16442
NM_000093.5(COL5A1):c.5371-289T>C rs11103543 0.15240
NM_000093.5(COL5A1):c.5371-66T>G rs12554062 0.12739
NM_000093.5(COL5A1):c.4555-294G>A rs10858284 0.11489
NM_000093.5(COL5A1):c.5371-42A>C rs114101109 0.07567
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_000093.5(COL5A1):c.4608+195G>A rs74960017 0.06286
NM_000093.5(COL5A1):c.4644+176G>A rs59721025 0.05263
NM_000093.5(COL5A1):c.4699-24C>T rs45443491 0.04875
NM_000093.5(COL5A1):c.4447-45G>A rs3811147 0.04567
NM_000093.5(COL5A1):c.4609-134A>G rs12346222 0.04553
NM_000093.5(COL5A1):c.4554+263G>A rs55768823 0.04377
NM_000093.5(COL5A1):c.4609-269dup rs141689755 0.03911
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_000093.5(COL5A1):c.5137-142C>T rs76439190 0.02791
NM_000093.5(COL5A1):c.5137-104C>T rs77932602 0.02522
NM_000093.5(COL5A1):c.4609-107G>A rs73664153 0.02347
NM_000093.5(COL5A1):c.4644+99C>G rs116680869 0.02154
NM_000093.5(COL5A1):c.4644+129C>G rs114653197 0.02093
NM_000093.5(COL5A1):c.4699-140C>T rs113110193 0.01856
NM_000093.5(COL5A1):c.4698+146G>A rs75918373 0.01816
NM_000093.5(COL5A1):c.4955-16C>T rs112712705 0.01710
NM_000093.5(COL5A1):c.4955-119C>T rs112278047 0.01700
NM_000093.5(COL5A1):c.4955-297G>T rs111857754 0.01698
NM_000093.5(COL5A1):c.5067+20C>G rs112600748 0.01689
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000093.5(COL5A1):c.5136+40A>G rs183298179 0.00678
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00512
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=) rs138436047 0.00116
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=) rs201871481 0.00012
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=) rs147904867 0.00005
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=) rs199637893 0.00004
NM_000093.5(COL5A1):c.5371-15C>T rs369764872 0.00003
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4554+258C>G rs4841935
NM_000093.5(COL5A1):c.4609-279_4609-278insCC rs370666409
NM_000093.5(COL5A1):c.4609-279dup rs370666409
NM_000093.5(COL5A1):c.4609-77G>C rs7036997
NM_000093.5(COL5A1):c.4955-139C>G rs7855787
NM_000093.5(COL5A1):c.5068-116del rs57187666
NM_000093.5(COL5A1):c.5136+373G>A rs10123667

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