ClinVar Miner

List of variants reported as benign for chondrodysplasia punctata, brachytelephalangic, autosomal by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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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 0.49448
NM_000047.3(ARSL):c.78A>G (p.Ala26=) rs35718384 0.06575
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 0.01293
NM_000047.3(ARSL):c.495T>C (p.His165=) rs35274634 0.01203
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.1694T>G (p.Ile565Ser) rs142375403 0.00139
NM_000047.3(ARSL):c.1289+9C>T rs375386476 0.00136
NM_000047.3(ARSL):c.1408G>C (p.Asp470His) rs61743737 0.00133
NM_000047.3(ARSL):c.103G>A (p.Ala35Thr) rs146065319 0.00132
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 0.00047
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739 0.00043
NM_000047.3(ARSL):c.220G>A (p.Val74Met) rs150756612 0.00041
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.467G>A (p.Ser156Asn) rs41310272 0.00021
NM_000047.3(ARSL):c.102C>T (p.Ser34=) rs151070930 0.00020
NM_000047.3(ARSL):c.1386C>T (p.His462=) rs183018622 0.00020
NM_000047.3(ARSL):c.664G>A (p.Val222Ile) rs150444751 0.00017
NM_000047.3(ARSL):c.840G>A (p.Ala280=) rs772678789 0.00016
NM_000047.3(ARSL):c.216C>T (p.Asp72=) rs767307974 0.00009
NM_000047.3(ARSL):c.24-15C>T rs375900834 0.00006
NM_000047.3(ARSL):c.1039C>T (p.Leu347Phe) rs756015600 0.00005
NM_000047.3(ARSL):c.24-14G>A rs769505725 0.00005
NM_000047.3(ARSL):c.1199C>T (p.Pro400Leu) rs372359634 0.00004
NM_000047.3(ARSL):c.1159A>C (p.Ile387Leu) rs780592542 0.00003
NM_000047.3(ARSL):c.703G>A (p.Val235Ile) rs200214721 0.00003
NM_000047.3(ARSL):c.1704G>A (p.Pro568=) rs776153736 0.00002
NM_000047.3(ARSL):c.1181G>A (p.Arg394His) rs774418329 0.00001
NM_000047.3(ARSL):c.23+17T>C rs766124346

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