ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant chondrodysplasia punctata

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.149T>C (p.Ile50Thr) rs774620797 0.00011
NM_000047.3(ARSL):c.987G>A (p.Met329Ile) rs199757831 0.00011
NM_000047.3(ARSL):c.1633G>A (p.Val545Met) rs752401423 0.00010
NM_000047.3(ARSL):c.1468G>A (p.Gly490Ser) rs762393900 0.00009
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000047.3(ARSL):c.1043T>C (p.Ile348Thr) rs759330790 0.00007
NM_000047.3(ARSL):c.593A>G (p.Asn198Ser) rs780625663 0.00007
NM_000047.3(ARSL):c.677C>T (p.Pro226Leu) rs140499958 0.00007
NM_000047.3(ARSL):c.1163G>A (p.Arg388His) rs754500316 0.00006
NM_000047.3(ARSL):c.1597G>A (p.Val533Met) rs376111412 0.00005
NM_000047.3(ARSL):c.1252G>A (p.Val418Met) rs751548925 0.00004
NM_000047.3(ARSL):c.1550C>T (p.Ser517Leu) rs747699123 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.1066G>A (p.Gly356Ser) rs372625507 0.00003
NM_000047.3(ARSL):c.1204G>A (p.Gly402Ser) rs779945606 0.00003
NM_000047.3(ARSL):c.1276G>T (p.Val426Leu) rs768735666 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.777C>G (p.His259Gln) rs755064045 0.00003
NM_000047.3(ARSL):c.58G>A (p.Ala20Thr) rs372935423 0.00002
NM_000047.3(ARSL):c.854+13G>A rs768322495 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.1258C>T (p.Arg420Trp) rs778253985 0.00001
NM_000047.3(ARSL):c.134C>T (p.Ala45Val) rs761135869 0.00001
NM_000047.3(ARSL):c.1525G>A (p.Asp509Asn) rs772908873 0.00001
NM_000047.3(ARSL):c.728T>C (p.Phe243Ser) rs779527848 0.00001
NC_000023.10:g.(?_2838622)_(2878441_?)dup
NC_000023.10:g.(?_2852873)_(2856318_?)dup
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.1077G>C (p.Glu359Asp) rs961100839
NM_000047.3(ARSL):c.1171G>A (p.Gly391Arg) rs767667671
NM_000047.3(ARSL):c.1180C>T (p.Arg394Cys)
NM_000047.3(ARSL):c.1219G>A (p.Glu407Lys) rs1272438892
NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu) rs142382411
NM_000047.3(ARSL):c.1264G>A (p.Ala422Thr)
NM_000047.3(ARSL):c.1285G>T (p.Asp429Tyr)
NM_000047.3(ARSL):c.133G>A (p.Ala45Thr) rs2518385054
NM_000047.3(ARSL):c.139G>A (p.Asp47Asn) rs2518385019
NM_000047.3(ARSL):c.1422G>C (p.Met474Ile) rs2089180172
NM_000047.3(ARSL):c.1461G>C (p.Glu487Asp) rs993209695
NM_000047.3(ARSL):c.1496C>T (p.Pro499Leu) rs1417395196
NM_000047.3(ARSL):c.1643A>T (p.His548Leu) rs2147342476
NM_000047.3(ARSL):c.1672C>A (p.Gln558Lys) rs2089175161
NM_000047.3(ARSL):c.1727C>T (p.Pro576Leu)
NM_000047.3(ARSL):c.1759G>A (p.Asp587Asn) rs753500701
NM_000047.3(ARSL):c.176A>G (p.Asn59Ser) rs2518384840
NM_000047.3(ARSL):c.356C>A (p.Ser119Tyr) rs2147389372
NM_000047.3(ARSL):c.402A>C (p.Lys134Asn) rs2147389286
NM_000047.3(ARSL):c.413A>G (p.Tyr138Cys)
NM_000047.3(ARSL):c.43C>G (p.Leu15Val)
NM_000047.3(ARSL):c.544G>A (p.Ala182Thr)
NM_000047.3(ARSL):c.569G>A (p.Arg190His) rs1603462104
NM_000047.3(ARSL):c.629C>T (p.Thr210Ile)
NM_000047.3(ARSL):c.668C>T (p.Ser223Leu)
NM_000047.3(ARSL):c.694C>G (p.Leu232Val) rs1357207608
NM_000047.3(ARSL):c.706C>A (p.Leu236Ile)
NM_000047.3(ARSL):c.827T>A (p.Leu276Gln)
NM_000047.3(ARSL):c.835G>C (p.Val279Leu)
NM_000047.3(ARSL):c.934G>A (p.Gly312Arg) rs773935389
NM_000047.3(ARSL):c.934G>C (p.Gly312Arg) rs773935389
NM_000047.3(ARSL):c.970G>A (p.Glu324Lys) rs1555909467
NM_000047.3(ARSL):c.978G>A (p.Met326Ile)
NM_000047.3(ARSL):c.988G>A (p.Val330Ile) rs2518346085

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