ClinVar Miner

List of variants in gene COL5A2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP
NC_000002.12:g.189078577C>T
NC_000002.12:g.189079053G>A
NC_000002.12:g.189088935_189088938del
NC_000002.12:g.189097333A>G
NM_000393.4(COL5A2):c.1455+6delG rs763475800
NM_000393.4(COL5A2):c.1923+5dupA rs1553515318
NM_000393.4(COL5A2):c.4113+16delT rs779762130
NM_000393.4(COL5A2):c.4114-19_4114-18delAG rs1440458273
NM_000393.4(COL5A2):c.961-3delT rs542134887
NM_000393.5(COL5A2):c.-16_-15insCTAACCCACATCAT rs765138557
NM_000393.5(COL5A2):c.-37T>G rs780293852
NM_000393.5(COL5A2):c.1011G>A (p.Pro337=) rs762983955
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1104+115T>C
NM_000393.5(COL5A2):c.1104+116T>C
NM_000393.5(COL5A2):c.1105-11T>G rs1057523251
NM_000393.5(COL5A2):c.1158+14G>A rs1057523022
NM_000393.5(COL5A2):c.1159-13T>C rs756321922
NM_000393.5(COL5A2):c.1159-227A>C
NM_000393.5(COL5A2):c.1159-246T>C
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=) rs1553515878
NM_000393.5(COL5A2):c.1257+12G>A rs759316090
NM_000393.5(COL5A2):c.1258-91T>G
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.5(COL5A2):c.1303-16T>A rs1057524650
NM_000393.5(COL5A2):c.1440C>T (p.Gly480=) rs368133226
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=)
NM_000393.5(COL5A2):c.153G>A (p.Arg51=) rs1057523986
NM_000393.5(COL5A2):c.1563+217C>G
NM_000393.5(COL5A2):c.1563+5A>G rs777118100
NM_000393.5(COL5A2):c.1617+9G>T rs186490845
NM_000393.5(COL5A2):c.1618-17G>A rs1272843185
NM_000393.5(COL5A2):c.1716+12G>A rs745767713
NM_000393.5(COL5A2):c.1716+13C>G rs779517028
NM_000393.5(COL5A2):c.1716+7A>G rs1057520896
NM_000393.5(COL5A2):c.1716+9A>G rs201934598
NM_000393.5(COL5A2):c.1717-86A>G
NM_000393.5(COL5A2):c.1770+287G>A
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=) rs773332771
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916
NM_000393.5(COL5A2):c.1977+12T>C rs202204374
NM_000393.5(COL5A2):c.1977+61G>A
NM_000393.5(COL5A2):c.1977+6T>A rs863223486
NM_000393.5(COL5A2):c.204C>A (p.Ala68=) rs1553519038
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765
NM_000393.5(COL5A2):c.2229+59G>A
NM_000393.5(COL5A2):c.2230-16T>A rs375334470
NM_000393.5(COL5A2):c.2230-197G>A
NM_000393.5(COL5A2):c.2230-255T>C
NM_000393.5(COL5A2):c.2230-54A>G
NM_000393.5(COL5A2):c.2337+143A>G
NM_000393.5(COL5A2):c.2338-24A>G
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.5(COL5A2):c.2392-18T>C rs746722538
NM_000393.5(COL5A2):c.2392-41C>T
NM_000393.5(COL5A2):c.2392-4A>G rs758314268
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093
NM_000393.5(COL5A2):c.2446-84A>G
NM_000393.5(COL5A2):c.2500-17T>C rs530643338
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.5(COL5A2):c.2553+52A>G
NM_000393.5(COL5A2):c.2554-5T>C rs373495598
NM_000393.5(COL5A2):c.2661+13G>T rs534626192
NM_000393.5(COL5A2):c.270G>A (p.Gly90=) rs756103588
NM_000393.5(COL5A2):c.2715+16G>A rs774654781
NM_000393.5(COL5A2):c.2715+213T>C
NM_000393.5(COL5A2):c.2715+42C>A
NM_000393.5(COL5A2):c.2769+10C>T rs777299355
NM_000393.5(COL5A2):c.2770-190G>A
NM_000393.5(COL5A2):c.2770-20T>G rs1553514295
NM_000393.5(COL5A2):c.2770-34G>T
NM_000393.5(COL5A2):c.2770-6T>C rs770409954
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138
NM_000393.5(COL5A2):c.2931+11C>T rs184002749
NM_000393.5(COL5A2):c.2932-162G>A
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792
NM_000393.5(COL5A2):c.3039+15C>A rs114619770
NM_000393.5(COL5A2):c.3039+15C>T rs114619770
NM_000393.5(COL5A2):c.3039G>A (p.Ala1013=) rs751945982
NM_000393.5(COL5A2):c.3040-190G>A
NM_000393.5(COL5A2):c.3040-40A>G
NM_000393.5(COL5A2):c.3148-216A>G
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=) rs769755441
NM_000393.5(COL5A2):c.3201+14C>T rs368713290
NM_000393.5(COL5A2):c.322+18C>G rs201708256
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060
NM_000393.5(COL5A2):c.323-15C>G rs766670107
NM_000393.5(COL5A2):c.323-9T>A rs1553518634
NM_000393.5(COL5A2):c.3309+100C>T
NM_000393.5(COL5A2):c.3309+107G>T
NM_000393.5(COL5A2):c.3309+16A>G rs369424272
NM_000393.5(COL5A2):c.337-212dup
NM_000393.5(COL5A2):c.3472-16T>C rs1057522404
NM_000393.5(COL5A2):c.3570T>C (p.Pro1190=) rs1553513205
NM_000393.5(COL5A2):c.369+20T>A rs1057523292
NM_000393.5(COL5A2):c.3705T>C (p.Asp1235=) rs1057524370
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322
NM_000393.5(COL5A2):c.3925+34G>A
NM_000393.5(COL5A2):c.3925+37G>T
NM_000393.5(COL5A2):c.3926-25G>C
NM_000393.5(COL5A2):c.4114-17A>G rs778711548
NM_000393.5(COL5A2):c.4114-20A>G rs1057523545
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=) rs755092575
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.5(COL5A2):c.4353+8C>G rs1057523735
NM_000393.5(COL5A2):c.4354-137T>C
NM_000393.5(COL5A2):c.4368T>C (p.Asn1456=)
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=) rs368234550
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.5(COL5A2):c.457-59G>A
NM_000393.5(COL5A2):c.567+17G>T rs780672109
NM_000393.5(COL5A2):c.567+7T>C rs755666206
NM_000393.5(COL5A2):c.568-15A>G rs1057522247
NM_000393.5(COL5A2):c.645+108C>T
NM_000393.5(COL5A2):c.744+18A>G rs373820975
NM_000393.5(COL5A2):c.745-13G>A rs145442880
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.5(COL5A2):c.798+184C>T
NM_000393.5(COL5A2):c.798+43C>T
NM_000393.5(COL5A2):c.799-6A>G rs111586240
NM_000393.5(COL5A2):c.853-13G>A rs1553516867
NM_000393.5(COL5A2):c.853-89T>C
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.5(COL5A2):c.906+10A>T rs776578452
NM_000393.5(COL5A2):c.906+12C>G rs1057521955
NM_000393.5(COL5A2):c.906+14A>G rs768645507
NM_000393.5(COL5A2):c.906+28A>G
NM_000393.5(COL5A2):c.98-13T>A rs376487446

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