ClinVar Miner

List of variants studied for autosomal dominant chondrodysplasia punctata by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 282
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.307+9C>G rs369969850 0.00029
NM_000047.3(ARSL):c.220G>A (p.Val74Met) rs150756612 0.00028
NM_000047.3(ARSL):c.854+18A>G rs186149776 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.987G>A (p.Met329Ile) rs199757831 0.00012
NM_000047.3(ARSL):c.149T>C (p.Ile50Thr) rs774620797 0.00011
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000047.3(ARSL):c.593A>G (p.Asn198Ser) rs780625663 0.00008
NM_000047.3(ARSL):c.664G>A (p.Val222Ile) rs150444751 0.00008
NM_000047.3(ARSL):c.1056G>A (p.Ser352=) rs187110605 0.00007
NM_000047.3(ARSL):c.1164C>T (p.Arg388=) rs145964787 0.00007
NM_000047.3(ARSL):c.1704G>A (p.Pro568=) rs776153736 0.00007
NM_000047.3(ARSL):c.1163G>A (p.Arg388His) rs754500316 0.00006
NM_000047.3(ARSL):c.1362G>A (p.Met454Ile) rs763217030 0.00006
NM_000047.3(ARSL):c.1405C>T (p.Arg469Trp) rs761977883 0.00006
NM_000047.3(ARSL):c.888C>T (p.Ser296=) rs184888777 0.00006
NM_000047.3(ARSL):c.1192G>A (p.Val398Met) rs749325947 0.00005
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.1550C>T (p.Ser517Leu) rs747699123 0.00004
NM_000047.3(ARSL):c.1597G>A (p.Val533Met) rs376111412 0.00004
NM_000047.3(ARSL):c.216C>T (p.Asp72=) rs767307974 0.00004
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser) rs122460151 0.00004
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys) rs368359145 0.00004
NM_000047.3(ARSL):c.752C>T (p.Ala251Val) rs368737099 0.00004
NM_000047.3(ARSL):c.994C>T (p.Arg332Trp) rs139875495 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000047.3(ARSL):c.23G>C (p.Cys8Ser) rs1057521599 0.00003
NM_000047.3(ARSL):c.280C>T (p.Leu94Phe) rs141210068 0.00003
NM_000047.3(ARSL):c.703G>A (p.Val235Ile) rs200214721 0.00003
NM_000047.3(ARSL):c.1066G>A (p.Gly356Ser) rs372625507 0.00002
NM_000047.3(ARSL):c.1127-15T>G rs746787848 0.00002
NM_000047.3(ARSL):c.58G>A (p.Ala20Thr) rs372935423 0.00002
NM_000047.3(ARSL):c.873C>A (p.Phe291Leu) rs747636238 0.00002
NM_000047.3(ARSL):c.995G>A (p.Arg332Gln) rs762087807 0.00002
NM_000047.3(ARSL):c.113C>T (p.Pro38Leu) rs756547783 0.00001
NM_000047.3(ARSL):c.1181G>A (p.Arg394His) rs774418329 0.00001
NM_000047.3(ARSL):c.1419A>G (p.Thr473=) rs755373707 0.00001
NM_000047.3(ARSL):c.1467C>T (p.Ala489=) rs1329604316 0.00001
NM_000047.3(ARSL):c.1525G>A (p.Asp509Asn) rs772908873 0.00001
NM_000047.3(ARSL):c.1629G>A (p.Gln543=) rs753971115 0.00001
NM_000047.3(ARSL):c.1653A>T (p.Thr551=) rs772926810 0.00001
NM_000047.3(ARSL):c.1686G>C (p.Leu562=) rs1057523183 0.00001
NM_000047.3(ARSL):c.24-1G>A rs762627146 0.00001
NM_000047.3(ARSL):c.474T>C (p.His158=) rs2089436420 0.00001
NM_000047.3(ARSL):c.728T>C (p.Phe243Ser) rs779527848 0.00001
NM_000047.3(ARSL):c.949G>A (p.Gly317Arg) rs1178912922 0.00001
NC_000023.10:g.(?_2835825)_(2878441_?)del
NC_000023.10:g.(?_2838622)_(2878441_?)dup
NC_000023.10:g.(?_2852873)_(2856318_?)dup
NC_000023.10:g.(?_2852873)_(2878441_?)del
NC_000023.10:g.(?_2873437)_(2876496_?)dup
NC_000023.11:g.(?_2934812)_(2958455_?)del
NM_000047.3(ARSL):c.1008T>A (p.Thr336=)
NM_000047.3(ARSL):c.1014C>T (p.Asp338=) rs1242404525
NM_000047.3(ARSL):c.1015G>A (p.Val339Met) rs759305139
NM_000047.3(ARSL):c.1022G>C (p.Gly341Ala) rs2089304436
NM_000047.3(ARSL):c.1026G>A (p.Leu342=)
NM_000047.3(ARSL):c.1035C>T (p.Ser345=)
NM_000047.3(ARSL):c.1041C>A (p.Leu347=)
NM_000047.3(ARSL):c.1047T>C (p.Tyr349=)
NM_000047.3(ARSL):c.1050T>C (p.Phe350=)
NM_000047.3(ARSL):c.1053G>A (p.Thr351=)
NM_000047.3(ARSL):c.1059T>C (p.Asp353=)
NM_000047.3(ARSL):c.1062C>T (p.His354=)
NM_000047.3(ARSL):c.1065C>A (p.Gly355=)
NM_000047.3(ARSL):c.1065C>T (p.Gly355=)
NM_000047.3(ARSL):c.1071C>G (p.Ser357=)
NM_000047.3(ARSL):c.1077G>A (p.Glu359=)
NM_000047.3(ARSL):c.1077G>C (p.Glu359Asp)
NM_000047.3(ARSL):c.108C>G (p.Ser36=)
NM_000047.3(ARSL):c.1092C>T (p.Asn364=)
NM_000047.3(ARSL):c.1126+13T>C
NM_000047.3(ARSL):c.1126+14G>A
NM_000047.3(ARSL):c.1127-10T>C
NM_000047.3(ARSL):c.1127-13T>C
NM_000047.3(ARSL):c.1127-19T>C
NM_000047.3(ARSL):c.1127-4C>G
NM_000047.3(ARSL):c.1127-5C>T
NM_000047.3(ARSL):c.1127-9C>T rs2089232090
NM_000047.3(ARSL):c.1134G>A (p.Lys378=)
NM_000047.3(ARSL):c.114G>C (p.Pro38=)
NM_000047.3(ARSL):c.114G>T (p.Pro38=)
NM_000047.3(ARSL):c.1158del (p.Ile387fs) rs2089231699
NM_000047.3(ARSL):c.1159A>C (p.Ile387Leu)
NM_000047.3(ARSL):c.1164C>A (p.Arg388=)
NM_000047.3(ARSL):c.1170C>T (p.Pro390=)
NM_000047.3(ARSL):c.1171G>A (p.Gly391Arg)
NM_000047.3(ARSL):c.1176C>A (p.Ile392=)
NM_000047.3(ARSL):c.117C>T (p.Asn39=)
NM_000047.3(ARSL):c.1200G>A (p.Pro400=)
NM_000047.3(ARSL):c.1203C>T (p.Ala401=)
NM_000047.3(ARSL):c.1204G>A (p.Gly402Ser)
NM_000047.3(ARSL):c.1218C>A (p.Gly406=) rs758104330
NM_000047.3(ARSL):c.1218C>T (p.Gly406=)
NM_000047.3(ARSL):c.1219G>A (p.Glu407Lys)
NM_000047.3(ARSL):c.1227G>A (p.Thr409=)
NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu) rs142382411
NM_000047.3(ARSL):c.1239C>T (p.Asp413=)
NM_000047.3(ARSL):c.1251C>T (p.Thr417=)
NM_000047.3(ARSL):c.1252G>A (p.Val418Met)
NM_000047.3(ARSL):c.1258C>T (p.Arg420Trp)
NM_000047.3(ARSL):c.1266G>A (p.Ala422=)
NM_000047.3(ARSL):c.1269C>T (p.Gly423=)
NM_000047.3(ARSL):c.1272C>A (p.Gly424=)
NM_000047.3(ARSL):c.1272C>T (p.Gly424=)
NM_000047.3(ARSL):c.1276G>T (p.Val426Leu)
NM_000047.3(ARSL):c.1284G>A (p.Gln428=)
NM_000047.3(ARSL):c.1299C>T (p.Asp433=)
NM_000047.3(ARSL):c.131_140del (p.Met44fs)
NM_000047.3(ARSL):c.1338A>G (p.Gln446=)
NM_000047.3(ARSL):c.133G>A (p.Ala45Thr)
NM_000047.3(ARSL):c.134C>T (p.Ala45Val)
NM_000047.3(ARSL):c.1350C>T (p.His450=)
NM_000047.3(ARSL):c.1357C>T (p.Leu453=)
NM_000047.3(ARSL):c.1359G>C (p.Leu453=)
NM_000047.3(ARSL):c.135G>A (p.Ala45=)
NM_000047.3(ARSL):c.1368T>C (p.Tyr456=)
NM_000047.3(ARSL):c.138C>T (p.Asp46=)
NM_000047.3(ARSL):c.139G>A (p.Asp47Asn)
NM_000047.3(ARSL):c.1404A>G (p.Gln468=)
NM_000047.3(ARSL):c.1411+13G>A
NM_000047.3(ARSL):c.1411+14C>A
NM_000047.3(ARSL):c.1412-13_1412-12del
NM_000047.3(ARSL):c.1412-16A>T
NM_000047.3(ARSL):c.1422G>C (p.Met474Ile) rs2089180172
NM_000047.3(ARSL):c.1431C>A (p.Val477=)
NM_000047.3(ARSL):c.1434C>T (p.His478=)
NM_000047.3(ARSL):c.1437T>C (p.Phe479=)
NM_000047.3(ARSL):c.1443G>A (p.Thr481=)
NM_000047.3(ARSL):c.1443G>C (p.Thr481=)
NM_000047.3(ARSL):c.1458A>G (p.Pro486=)
NM_000047.3(ARSL):c.1461G>A (p.Glu487=)
NM_000047.3(ARSL):c.1461G>C (p.Glu487Asp)
NM_000047.3(ARSL):c.1468G>A (p.Gly490Ser)
NM_000047.3(ARSL):c.1479T>C (p.Tyr493=)
NM_000047.3(ARSL):c.147C>T (p.Gly49=)
NM_000047.3(ARSL):c.1496C>T (p.Pro499Leu)
NM_000047.3(ARSL):c.1497G>A (p.Pro499=)
NM_000047.3(ARSL):c.1497G>C (p.Pro499=)
NM_000047.3(ARSL):c.1518C>A (p.Val506=)
NM_000047.3(ARSL):c.1524C>T (p.His508=)
NM_000047.3(ARSL):c.1581A>G (p.Thr527=)
NM_000047.3(ARSL):c.1596C>T (p.Pro532=)
NM_000047.3(ARSL):c.1611G>A (p.Val537=)
NM_000047.3(ARSL):c.1618C>T (p.Arg540Ter)
NM_000047.3(ARSL):c.1619G>A (p.Arg540Gln)
NM_000047.3(ARSL):c.1620A>G (p.Arg540=)
NM_000047.3(ARSL):c.1626G>A (p.Gln542=)
NM_000047.3(ARSL):c.1632G>A (p.Ala544=)
NM_000047.3(ARSL):c.1633G>A (p.Val545Met)
NM_000047.3(ARSL):c.1635G>A (p.Val545=)
NM_000047.3(ARSL):c.1643A>T (p.His548Leu) rs2147342476
NM_000047.3(ARSL):c.1659C>T (p.Ser553=)
NM_000047.3(ARSL):c.1665T>C (p.Val555=)
NM_000047.3(ARSL):c.1672C>A (p.Gln558Lys) rs2089175161
NM_000047.3(ARSL):c.168T>C (p.Tyr56=)
NM_000047.3(ARSL):c.1759G>A (p.Asp587Asn) rs753500701
NM_000047.3(ARSL):c.176A>G (p.Asn59Ser)
NM_000047.3(ARSL):c.185+13G>C
NM_000047.3(ARSL):c.185+18A>G
NM_000047.3(ARSL):c.185+1G>A rs2147401174
NM_000047.3(ARSL):c.185+20T>C
NM_000047.3(ARSL):c.186-10C>A
NM_000047.3(ARSL):c.186-6C>T
NM_000047.3(ARSL):c.192G>A (p.Pro64=)
NM_000047.3(ARSL):c.217G>A (p.Gly73Ser) rs2147394157
NM_000047.3(ARSL):c.219C>G (p.Gly73=)
NM_000047.3(ARSL):c.222G>A (p.Val74=)
NM_000047.3(ARSL):c.23+15T>C
NM_000047.3(ARSL):c.23+17T>C rs766124346
NM_000047.3(ARSL):c.23+19C>T
NM_000047.3(ARSL):c.23+1G>C
NM_000047.3(ARSL):c.23+9C>A
NM_000047.3(ARSL):c.237C>T (p.His79=)
NM_000047.3(ARSL):c.24-12A>C
NM_000047.3(ARSL):c.24-12A>G
NM_000047.3(ARSL):c.24-14G>A
NM_000047.3(ARSL):c.24-15C>T
NM_000047.3(ARSL):c.24-2A>G
NM_000047.3(ARSL):c.246C>T (p.Ala82=)
NM_000047.3(ARSL):c.27G>A (p.Leu9=)
NM_000047.3(ARSL):c.282C>T (p.Leu94=)
NM_000047.3(ARSL):c.285G>A (p.Thr95=)
NM_000047.3(ARSL):c.307+18A>G
NM_000047.3(ARSL):c.307+19C>G
NM_000047.3(ARSL):c.308-12_308-10del
NM_000047.3(ARSL):c.327T>C (p.Gly109=)
NM_000047.3(ARSL):c.348C>G (p.Thr116=)
NM_000047.3(ARSL):c.348C>T (p.Thr116=)
NM_000047.3(ARSL):c.356C>A (p.Ser119Tyr) rs2147389372
NM_000047.3(ARSL):c.372A>C (p.Thr124=)
NM_000047.3(ARSL):c.402A>C (p.Lys134Asn) rs2147389286
NM_000047.3(ARSL):c.430+19G>C
NM_000047.3(ARSL):c.430+9G>A
NM_000047.3(ARSL):c.430+9G>C
NM_000047.3(ARSL):c.431-15C>T
NM_000047.3(ARSL):c.431-16C>T
NM_000047.3(ARSL):c.431-18A>C
NM_000047.3(ARSL):c.431-7C>T
NM_000047.3(ARSL):c.431-8C>T
NM_000047.3(ARSL):c.431-9G>C
NM_000047.3(ARSL):c.513C>T (p.Tyr171=)
NM_000047.3(ARSL):c.51G>A (p.Ala17=)
NM_000047.3(ARSL):c.543C>T (p.Cys181=)
NM_000047.3(ARSL):c.569G>A (p.Arg190His) rs1603462104
NM_000047.3(ARSL):c.57C>T (p.Leu19=)
NM_000047.3(ARSL):c.60T>C (p.Ala20=) rs753424605
NM_000047.3(ARSL):c.639A>G (p.Ala213=)
NM_000047.3(ARSL):c.663C>T (p.Pro221=)
NM_000047.3(ARSL):c.669G>A (p.Ser223=)
NM_000047.3(ARSL):c.677C>T (p.Pro226Leu)
NM_000047.3(ARSL):c.678G>A (p.Pro226=)
NM_000047.3(ARSL):c.681C>T (p.Val227=)
NM_000047.3(ARSL):c.693C>G (p.Ala231=)
NM_000047.3(ARSL):c.694C>G (p.Leu232Val) rs1357207608
NM_000047.3(ARSL):c.696T>G (p.Leu232=)
NM_000047.3(ARSL):c.699G>A (p.Ser233=)
NM_000047.3(ARSL):c.702C>T (p.Ala234=)
NM_000047.3(ARSL):c.74del (p.Leu25fs) rs2147401694
NM_000047.3(ARSL):c.750T>C (p.His250=)
NM_000047.3(ARSL):c.753C>G (p.Ala251=)
NM_000047.3(ARSL):c.753C>T (p.Ala251=)
NM_000047.3(ARSL):c.756T>C (p.Asp252=)
NM_000047.3(ARSL):c.763C>T (p.Leu255=)
NM_000047.3(ARSL):c.777C>G (p.His259Gln)
NM_000047.3(ARSL):c.78A>T (p.Ala26=)
NM_000047.3(ARSL):c.801C>T (p.Cys267=)
NM_000047.3(ARSL):c.813G>A (p.Thr271=)
NM_000047.3(ARSL):c.819C>G (p.Pro273=) rs763836878
NM_000047.3(ARSL):c.819C>T (p.Pro273=)
NM_000047.3(ARSL):c.837T>C (p.Val279=)
NM_000047.3(ARSL):c.854+13G>A
NM_000047.3(ARSL):c.854+16T>C
NM_000047.3(ARSL):c.854+7A>T
NM_000047.3(ARSL):c.855-14G>A
NM_000047.3(ARSL):c.855-16T>C
NM_000047.3(ARSL):c.855-8A>G
NM_000047.3(ARSL):c.909T>C (p.Pro303=)
NM_000047.3(ARSL):c.933C>T (p.Leu311=)
NM_000047.3(ARSL):c.934G>A (p.Gly312Arg) rs773935389
NM_000047.3(ARSL):c.934G>C (p.Gly312Arg)
NM_000047.3(ARSL):c.936G>A (p.Gly312=)
NM_000047.3(ARSL):c.93C>T (p.Ser31=)
NM_000047.3(ARSL):c.948C>T (p.His316=)
NM_000047.3(ARSL):c.951G>A (p.Gly317=)
NM_000047.3(ARSL):c.954G>C (p.Leu318=)
NM_000047.3(ARSL):c.960G>A (p.Gly320=)
NM_000047.3(ARSL):c.966C>T (p.Asn322=)
NM_000047.3(ARSL):c.969A>C (p.Val323=)
NM_000047.3(ARSL):c.970G>A (p.Glu324Lys) rs1555909467
NM_000047.3(ARSL):c.981C>T (p.Asp327=)
NM_000047.3(ARSL):c.988G>A (p.Val330Ile)
NM_000047.3(ARSL):c.991+10C>A
NM_000047.3(ARSL):c.991+17G>A
NM_000047.3(ARSL):c.992-13C>A

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