ClinVar Miner

List of variants reported as uncertain significance for Skeletal dysplasia

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ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.*406G>A rs80210009 0.01614
NM_004273.5(CHST3):c.*346C>T rs76094341 0.00947
NM_004273.5(CHST3):c.*3306A>G rs12250549 0.00836
NM_004273.5(CHST3):c.*274C>T rs116508900 0.00804
NM_004273.5(CHST3):c.*4341C>A rs12267478 0.00688
NM_004273.5(CHST3):c.*1009C>T rs190763138 0.00583
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_004273.5(CHST3):c.*523A>G rs189173490 0.00516
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_004273.5(CHST3):c.*2660C>T rs143743853 0.00389
NM_004273.5(CHST3):c.*855A>C rs181471425 0.00370
NM_004273.5(CHST3):c.*1130C>G rs4148942 0.00369
NM_004273.5(CHST3):c.*856C>G rs186004202 0.00369
NM_004273.5(CHST3):c.*290G>C rs184330297 0.00304
NM_004273.5(CHST3):c.*3445G>A rs185581202 0.00203
NM_004273.5(CHST3):c.*981A>T rs573670057 0.00197
NM_004273.5(CHST3):c.*809C>T rs145689465 0.00178
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_004273.5(CHST3):c.*3571T>C rs575592721 0.00094
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_004273.5(CHST3):c.*4450G>C rs183731077 0.00066
NM_004273.5(CHST3):c.*469C>A rs539699501 0.00066
NM_004273.5(CHST3):c.*4495G>A rs730721 0.00064
NM_004273.5(CHST3):c.-51G>A rs202050418 0.00053
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_004273.5(CHST3):c.*4162A>G rs551591119 0.00041
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_004273.5(CHST3):c.*4049C>A rs192320139 0.00035
NM_004273.5(CHST3):c.*4865C>T rs140500823 0.00035
NM_004273.5(CHST3):c.*3131G>A rs577353046 0.00029
NM_004273.5(CHST3):c.*1463G>T rs529839491 0.00021
NM_004273.5(CHST3):c.*1664G>C rs375960396 0.00021
NM_004273.5(CHST3):c.*3022A>T rs145507314 0.00021
NM_004273.5(CHST3):c.*4884C>G rs886047185 0.00021
NM_004273.5(CHST3):c.*3565A>G rs151095465 0.00019
NM_004273.5(CHST3):c.*4534G>A rs372116465 0.00019
NM_004273.5(CHST3):c.*2843_*2844del rs886047178 0.00016
NM_004273.5(CHST3):c.*4869G>A rs773240688 0.00016
NM_004273.5(CHST3):c.*3245G>A rs545967470 0.00014
NM_004273.5(CHST3):c.*4498A>G rs552578786 0.00014
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00013
NM_004273.5(CHST3):c.*4336A>G rs569758444 0.00009
NM_004273.5(CHST3):c.*4409C>T rs754282055 0.00009
NM_004273.5(CHST3):c.*887A>G rs555113303 0.00008
NM_004273.5(CHST3):c.*1091G>T rs886047167 0.00007
NM_004273.5(CHST3):c.-265C>G rs371903365 0.00007
NM_004273.5(CHST3):c.*1042C>G rs886047165 0.00006
NM_004273.5(CHST3):c.*3857G>A rs537395654 0.00006
NM_004273.5(CHST3):c.*1621C>G rs768478124 0.00005
NM_004273.5(CHST3):c.-131G>A rs886047158 0.00005
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg) rs777858428 0.00005
NM_004273.5(CHST3):c.*3905C>T rs886047181 0.00004
NM_004273.5(CHST3):c.*1698C>G rs377338550 0.00003
NM_004273.5(CHST3):c.*410C>T rs886047160 0.00003
NM_004273.5(CHST3):c.*4821G>A rs886047184 0.00003
NM_004273.5(CHST3):c.*812G>A rs886047162 0.00003
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys) rs368468468 0.00003
NM_004273.5(CHST3):c.*1053A>T rs886047166 0.00002
NM_004273.5(CHST3):c.*4210T>C rs559945769 0.00002
NM_004273.5(CHST3):c.*1244G>T rs886047168 0.00001
NM_004273.5(CHST3):c.*1256G>A rs886047169 0.00001
NM_004273.5(CHST3):c.*1536G>A rs376062544 0.00001
NM_004273.5(CHST3):c.*1960G>A rs886047172 0.00001
NM_004273.5(CHST3):c.*2226A>G rs886047175 0.00001
NM_004273.5(CHST3):c.*2592C>T rs886047176 0.00001
NM_004273.5(CHST3):c.*4628A>C rs886047182 0.00001
NM_004273.5(CHST3):c.*544C>T rs886047161 0.00001
NM_004273.5(CHST3):c.*851T>C rs886047163 0.00001
NM_004273.5(CHST3):c.543C>T (p.Ala181=) rs778478785 0.00001
NM_003722.5(TP63):c.1460G>A (p.Arg487His)
NM_004273.5(CHST3):c.*1088A>G rs115617050
NM_004273.5(CHST3):c.*1088A>T rs115617050
NM_004273.5(CHST3):c.*1090G>A rs148125052
NM_004273.5(CHST3):c.*1184C>G rs187692473
NM_004273.5(CHST3):c.*1185C>G rs373515105
NM_004273.5(CHST3):c.*1399T>C rs562405951
NM_004273.5(CHST3):c.*1404C>G rs886047170
NM_004273.5(CHST3):c.*1584T>G rs886047171
NM_004273.5(CHST3):c.*2178G>T rs886047174
NM_004273.5(CHST3):c.*238G>A rs543236876
NM_004273.5(CHST3):c.*2656A>G rs886047177
NM_004273.5(CHST3):c.*3167G>A rs886047179
NM_004273.5(CHST3):c.*3384G>A rs886047180
NM_004273.5(CHST3):c.*4609G>A rs552018988
NM_004273.5(CHST3):c.*4820C>T rs886047183
NM_004273.5(CHST3):c.*922C>T rs886047164
NM_004273.5(CHST3):c.-108+6T>G rs886047159
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly) rs766145797
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln) rs199515173
NM_004273.5(CHST3):c.886G>C (p.Val296Leu) rs762224143
Single allele

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