ClinVar Miner

List of variants reported as benign for autosomal dominant chondrodysplasia punctata

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) rs35143646 0.50841
NM_000047.3(ARSL):c.1692C>T (p.Asn564=) rs11222 0.47884
NM_000047.3(ARSL):c.78A>G (p.Ala26=) rs35718384 0.07015
NM_000047.3(ARSL):c.786G>A (p.Thr262=) rs17325750 0.05921
NM_000047.3(ARSL):c.1728G>A (p.Pro576=) rs11055 0.05776
NM_000047.3(ARSL):c.549C>T (p.Arg183=) rs5982618 0.03335
NM_000047.3(ARSL):c.157A>G (p.Ile53Val) rs61733256 0.02854
NM_000047.3(ARSL):c.548G>A (p.Arg183His) rs34412194 0.01378
NM_000047.3(ARSL):c.495T>C (p.His165=) rs35274634 0.01303
NM_000047.3(ARSL):c.430+8C>T rs56393981 0.00462
NM_000047.3(ARSL):c.855-15C>T rs189879863 0.00159
NM_000047.3(ARSL):c.1408G>C (p.Asp470His) rs61743737 0.00143
NM_000047.3(ARSL):c.103G>A (p.Ala35Thr) rs146065319 0.00141
NM_000047.3(ARSL):c.1289+9C>T rs375386476 0.00136
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser) rs142375403 0.00129
NM_000047.3(ARSL):c.114G>A (p.Pro38=) rs147879083 0.00087
NM_000047.3(ARSL):c.23+5G>C rs200062390 0.00068
NM_000047.3(ARSL):c.714C>T (p.Leu238=) rs34795651 0.00062
NM_000047.3(ARSL):c.775C>G (p.His259Asp) rs138149353 0.00052
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg) rs201424543 0.00049
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739 0.00043
NM_000047.3(ARSL):c.220G>A (p.Val74Met) rs150756612 0.00028
NM_000047.3(ARSL):c.1259G>A (p.Arg420Gln) rs137882432 0.00025
NM_000047.3(ARSL):c.715G>A (p.Ala239Thr) rs144630754 0.00023
NM_000047.3(ARSL):c.102C>T (p.Ser34=) rs151070930 0.00021
NM_000047.3(ARSL):c.467G>A (p.Ser156Asn) rs41310272 0.00021
NM_000047.3(ARSL):c.840G>A (p.Ala280=) rs772678789 0.00016
NM_000047.3(ARSL):c.1386C>T (p.His462=) rs183018622 0.00013
NM_000047.3(ARSL):c.664G>A (p.Val222Ile) rs150444751 0.00008
NM_000047.3(ARSL):c.1704G>A (p.Pro568=) rs776153736 0.00007
NM_000047.3(ARSL):c.1039C>T (p.Leu347Phe) rs756015600 0.00004
NM_000047.3(ARSL):c.1199C>T (p.Pro400Leu) rs372359634 0.00004
NM_000047.3(ARSL):c.216C>T (p.Asp72=) rs767307974 0.00004
NM_000047.3(ARSL):c.703G>A (p.Val235Ile) rs200214721 0.00003
NM_000047.3(ARSL):c.1181G>A (p.Arg394His) rs774418329 0.00001
NM_000047.3(ARSL):c.1159A>C (p.Ile387Leu)
NM_000047.3(ARSL):c.23+17T>C rs766124346
NM_000047.3(ARSL):c.24-14G>A
NM_000047.3(ARSL):c.24-15C>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.