ClinVar Miner

List of variants reported as pathogenic for X-linked chondrodysplasia punctata

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser) rs122460151 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser) rs28935474 0.00001
NM_000047.3(ARSL):c.24-1G>A rs762627146 0.00001
NC_000023.10:g.(?_2838632)_(2878441_?)del
NC_000023.11:g.(?_2934812)_(2958455_?)del
NC_000023.11:g.(?_2934812)_(2960420_?)del
NM_000047.3(ARSL):c.1289+1G>A rs2147349066
NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr) rs122460155
NM_000047.3(ARSL):c.332G>C (p.Arg111Pro) rs122460153
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000047.3(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000047.3(ARSL):c.733G>C (p.Gly245Arg) rs122460154
NM_000047.3(ARSL):c.916A>G (p.Thr306Ala)
NM_006579.3(EBP):c.141G>T (p.Trp47Cys) rs587783599
NM_006579.3(EBP):c.182G>A (p.Trp61Ter) rs587783600
NM_006579.3(EBP):c.187C>T (p.Arg63Ter) rs104894799
NM_006579.3(EBP):c.203G>A (p.Trp68Ter) rs2061771803
NM_006579.3(EBP):c.225dup (p.His76fs) rs797045543
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) rs104894800
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) rs145509273
NM_006579.3(EBP):c.292_296del (p.Ser98fs) rs587783604
NM_006579.3(EBP):c.301+2T>A rs587783606
NM_006579.3(EBP):c.304A>T (p.Lys102Ter) rs587783608
NM_006579.3(EBP):c.310T>C (p.Tyr104His) rs587783609
NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)
NM_006579.3(EBP):c.328C>T (p.Arg110Ter) rs587783613
NM_006579.3(EBP):c.329G>A (p.Arg110Gln) rs1602090481
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter) rs797045544
NM_006579.3(EBP):c.338+1G>C rs1569479885
NM_006579.3(EBP):c.338+1G>T rs1569479885
NM_006579.3(EBP):c.386G>A (p.Trp129Ter) rs104894792
NM_006579.3(EBP):c.390del (p.Pro131fs) rs1569479901
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) rs797045546
NM_006579.3(EBP):c.440G>A (p.Arg147His) rs28935174
NM_006579.3(EBP):c.464_465del (p.Ser155fs) rs587783615
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) rs587783616
NM_006579.3(EBP):c.484dup (p.Asp162fs) rs797045547
NM_006579.3(EBP):c.506_507del (p.Glu169fs) rs1602091152
NM_006579.3(EBP):c.523C>T (p.Gln175Ter) rs104894793
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter) rs1569480016
NM_006579.3(EBP):c.587G>A (p.Trp196Ter) rs104894794
NM_006579.3(EBP):c.87G>A (p.Trp29Ter) rs104894798

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