ClinVar Miner

List of variants in gene COL3A1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2283+219C>T rs3134653 0.99411
NM_000090.4(COL3A1):c.3823+276_3823+277insA rs11458492 0.99118
NM_000090.4(COL3A1):c.1869+88C>T rs3134654 0.99090
NM_000090.4(COL3A1):c.2337+23T>A rs2271682 0.71236
NM_000090.4(COL3A1):c.1051-94T>C rs12693525 0.36503
NM_000090.4(COL3A1):c.282+85A>G rs3106796 0.34739
NM_000090.4(COL3A1):c.1510-290C>T rs3106798 0.34722
NM_000090.4(COL3A1):c.951+223C>T rs3134656 0.34685
NM_000090.4(COL3A1):c.799-56T>A rs2203601 0.34658
NM_000090.4(COL3A1):c.80-156A>G rs16830973 0.34000
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_000090.4(COL3A1):c.1662+92G>A rs62181728 0.26499
NM_000090.4(COL3A1):c.1761+174T>A rs41263753 0.26444
NM_000090.4(COL3A1):c.1663-93T>C rs62181730 0.24692
NM_000090.4(COL3A1):c.4255-216A>C rs13028444 0.23619
NM_000090.4(COL3A1):c.3824-31C>A rs10204508 0.23605
NM_000090.4(COL3A1):c.2553+56T>A rs3736489 0.23574
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_000090.4(COL3A1):c.3255+84G>C rs13306270 0.19883
NM_000090.4(COL3A1):c.852+160G>A rs3736487 0.19139
NM_000090.4(COL3A1):c.798+181A>G rs62181727 0.19099
NM_000090.4(COL3A1):c.528+228C>A rs10210530 0.17368
NM_000090.4(COL3A1):c.1816-14G>C rs7579815 0.15982
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_000090.4(COL3A1):c.1510-274G>T rs12105286 0.13017
NM_000090.4(COL3A1):c.1924-184A>C rs11902058 0.12943
NM_000090.4(COL3A1):c.1870-74G>A rs2271680 0.12575
NM_000090.4(COL3A1):c.2608-50C>T rs3765161 0.12570
NM_000090.4(COL3A1):c.2608-79G>A rs3765160 0.12563
NM_000090.4(COL3A1):c.1608+114A>C rs13306267 0.12556
NM_000090.4(COL3A1):c.1609-59T>C rs13306269 0.12536
NM_000090.4(COL3A1):c.447+190T>C rs10497695 0.11919
NM_000090.4(COL3A1):c.690+173T>A rs12616391 0.11832
NM_000090.4(COL3A1):c.690+174T>C rs58220378 0.11831
NM_000090.4(COL3A1):c.798+80A>G rs13306275 0.10761
NM_000090.4(COL3A1):c.1663-91C>T rs192889832 0.10611
NM_000090.4(COL3A1):c.853-127A>G rs3736488 0.10417
NM_000090.4(COL3A1):c.1608+141A>G rs13306268 0.10245
NM_000090.4(COL3A1):c.528+250T>A rs7576108 0.10241
NM_000090.4(COL3A1):c.3039+63A>C rs7583195 0.09398
NM_000090.4(COL3A1):c.3202-90A>G rs10168216 0.09133
NM_000090.4(COL3A1):c.3202-36C>T rs10194304 0.09128
NM_000090.4(COL3A1):c.3202-40G>A rs10194475 0.09121
NM_000090.4(COL3A1):c.799-303C>G rs16830983 0.08080
NM_000090.4(COL3A1):c.1815+18A>G rs28413125 0.08030
NM_000090.4(COL3A1):c.4255-266G>A rs10208311 0.07357
NM_000090.4(COL3A1):c.3525+23G>C rs41265547 0.07099
NM_000090.4(COL3A1):c.4012-137T>G rs35162377 0.06650
NM_000090.4(COL3A1):c.799-86A>G rs16830984 0.05594
NM_000090.4(COL3A1):c.79+204T>C rs41265571 0.04517
NM_000090.4(COL3A1):c.690+24G>T rs11886142 0.02980
NM_000090.4(COL3A1):c.690+162A>G rs12619321 0.02472
NM_000090.4(COL3A1):c.4011+34A>G rs41265549 0.02376
NM_000090.4(COL3A1):c.*43A>G rs8224 0.02368
NM_000090.4(COL3A1):c.1869+134G>A rs73981459 0.02125
NM_000090.4(COL3A1):c.2931+75T>A rs73047659 0.01986
NM_000090.4(COL3A1):c.2662-92G>C rs41263781 0.01948
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01840
NM_000090.4(COL3A1):c.1662+94A>G rs1040194083 0.01540
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) rs80302667 0.01481
NM_000090.4(COL3A1):c.1662+95T>C rs549358202 0.01466
NM_000090.4(COL3A1):c.1662+96A>G rs901717744 0.01360
NM_000090.4(COL3A1):c.637-243G>A rs56107615 0.01157
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
NM_000090.4(COL3A1):c.80-16C>T rs28763875 0.00914
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00713
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000090.4(COL3A1):c.1870-49T>C rs2271681 0.00525
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000090.4(COL3A1):c.4059= (p.His1353=) rs1516446 0.00491
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_000090.4(COL3A1):c.528+22C>T rs16830979 0.00269
NM_000090.4(COL3A1):c.3039+16T>G rs41264443 0.00259
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000090.4(COL3A1):c.3202-14del rs767971610 0.00059
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=) rs111683983 0.00045
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000090.4(COL3A1):c.3525+19G>A rs781061046 0.00010
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 0.00006
NM_000090.4(COL3A1):c.2121+18C>A rs587780904 0.00004
NM_000090.4(COL3A1):c.2931+9A>T rs752325298 0.00001
NM_000090.4(COL3A1):c.4011+8A>C rs781175426 0.00001
NM_000090.4(COL3A1):c.1149+59_1149+85del rs531947962
NM_000090.4(COL3A1):c.1348-4del rs758567906
NM_000090.4(COL3A1):c.1609-118A>G rs111835500
NM_000090.4(COL3A1):c.1662+106_1662+107del rs1227752129
NM_000090.4(COL3A1):c.1662+106_1662+109del rs751184473
NM_000090.4(COL3A1):c.1662+72GT[10] rs112143266
NM_000090.4(COL3A1):c.1662+72GT[9] rs112143266
NM_000090.4(COL3A1):c.1662+91_1662+92insAT rs199811168
NM_000090.4(COL3A1):c.1663-102_1663-99del rs201608544
NM_000090.4(COL3A1):c.1663-108_1663-99del rs148121621
NM_000090.4(COL3A1):c.1663-92AC[12] rs141685938
NM_000090.4(COL3A1):c.1663-94_1663-93insCACA rs200204993
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA rs200204993
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACACA rs200204993
NM_000090.4(COL3A1):c.1761+172TG[3] rs41263755
NM_000090.4(COL3A1):c.1762-150ATATATATATGAGAC[4] rs66853741
NM_000090.4(COL3A1):c.1762-150ATATATATATGAGAC[5] rs66853741
NM_000090.4(COL3A1):c.1924-102G>A rs28736387
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2553+94C>T rs3736490
NM_000090.4(COL3A1):c.3202-188C>T rs10191859
NM_000090.4(COL3A1):c.3255+107AT[15] rs36195651
NM_000090.4(COL3A1):c.3255+107AT[20] rs36195651
NM_000090.4(COL3A1):c.3255+107AT[9] rs36195651
NM_000090.4(COL3A1):c.3255+172GATA[10] rs60243485
NM_000090.4(COL3A1):c.3255+172GATA[11] rs60243485
NM_000090.4(COL3A1):c.3255+172GATA[5] rs60243485
NM_000090.4(COL3A1):c.3255+172GATA[9] rs60243485
NM_000090.4(COL3A1):c.4254+79T>G rs3768660
NM_000090.4(COL3A1):c.528+227dup rs200811296
NM_000090.4(COL3A1):c.799-6del rs767927599
NM_000090.4(COL3A1):c.996+94TA[6] rs112545975

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