ClinVar Miner

List of variants in gene COL6A3 studied for Ullrich congenital muscular dystrophy 1A

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669 0.81638
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818 0.68552
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) rs3790993 0.56512
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) rs4433949 0.38748
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296 0.36920
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) rs2646254 0.25503
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) rs2645774 0.23421
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) rs12622093 0.20507
NM_004369.4(COL6A3):c.7092+26G>A rs2270656 0.19247
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=) rs2291795 0.12954
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032 0.00703
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004369.4(COL6A3):c.6592-16A>T rs181698279 0.00026
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr) rs115819851 0.00017
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069 0.00009
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856 0.00008
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965 0.00007
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338 0.00004
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743 0.00003
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870 0.00003
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met) rs541703064 0.00002
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126 0.00002
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) rs181264679 0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser) rs1321693848 0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NM_004369.4(COL6A3):c.709+8C>T rs779535244 0.00001
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) rs1370564126 0.00001
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NM_004369.4(COL6A3):c.1012G>A (p.Gly338Arg)
NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser) rs2106370324
NM_004369.4(COL6A3):c.1921A>G (p.Ile641Val)
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.4(COL6A3):c.269A>T (p.Glu90Val) rs2078397283
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.4(COL6A3):c.3497G>C (p.Gly1166Ala)
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly) rs1480888719
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu) rs754840728
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
NM_004369.4(COL6A3):c.5149G>A (p.Ala1717Thr)
NM_004369.4(COL6A3):c.5243T>G (p.Phe1748Cys)
NM_004369.4(COL6A3):c.5270A>C (p.Glu1757Ala)
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) rs150200531
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr) rs756521643
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe) rs2106349155
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) rs113332380
NM_004369.4(COL6A3):c.6157-1G>A
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.6282+1G>A rs398124128
NM_004369.4(COL6A3):c.6354+1G>A rs886042883
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
NM_004369.4(COL6A3):c.6930+5G>A rs749037028
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.4(COL6A3):c.7668+1G>A
NM_004369.4(COL6A3):c.7669-2del rs764193290
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) rs2106319784
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs) rs2106317762
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)

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