ClinVar Miner

List of variants studied for X-linked chondrodysplasia punctata

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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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 0.47884
NM_006579.3(EBP):c.15G>T (p.Ala5=) rs3048 0.28803
NM_000047.3(ARSL):c.78A>G (p.Ala26=) rs35718384 0.07015
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.23+687G>A rs61733257 0.02344
NM_000047.3(ARSL):c.24-26C>T rs2302079 0.01922
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_006579.3(EBP):c.382C>T (p.Leu128=) rs142881014 0.00291
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser) rs142375403 0.00129
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
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_006579.3(EBP):c.650C>T (p.Thr217Met) rs150348311 0.00044
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739 0.00043
NM_006579.3(EBP):c.13G>A (p.Ala5Thr) rs201992088 0.00027
NM_000047.3(ARSL):c.467G>A (p.Ser156Asn) rs41310272 0.00021
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
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_006579.3(EBP):c.188G>A (p.Arg63Gln) rs782638360 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.119T>G (p.Ile40Ser) rs80338710 0.00001
NM_000047.3(ARSL):c.1442C>T (p.Thr481Met) rs80338713 0.00001
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser) rs28935474 0.00001
NM_000047.3(ARSL):c.24-1G>A rs762627146 0.00001
NM_000047.3(ARSL):c.337C>T (p.Leu113Phe) rs145946864 0.00001
NM_000047.3(ARSL):c.898G>A (p.Val300Ile) rs752354785 0.00001
NM_000047.3(ARSL):c.949G>A (p.Gly317Arg) rs1178912922 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.-14GA[3] rs200332753
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val) rs2089304436
NM_000047.3(ARSL):c.1127-141GA[10] rs34095951
NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter) rs1272438892
NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu) rs142382411
NM_000047.3(ARSL):c.1265C>T (p.Ala422Val)
NM_000047.3(ARSL):c.1289+1G>A rs2147349066
NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr) rs122460155
NM_000047.3(ARSL):c.217G>A (p.Gly73Ser) rs2147394157
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.430G>A (p.Gly144Arg)
NM_000047.3(ARSL):c.684C>G (p.Ile228Met) rs1359359899
NM_000047.3(ARSL):c.733G>C (p.Gly245Arg) rs122460154
NM_000047.3(ARSL):c.910_918del (p.Leu304_Thr306del)
NM_000047.3(ARSL):c.916A>G (p.Thr306Ala)
NM_000047.3(ARSL):c.991+2T>C
NM_000047.3(ARSL):c.992-219C>G rs211643
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.184C>T (p.Arg62Trp) rs372974717
NM_006579.3(EBP):c.187C>T (p.Arg63Ter) rs104894799
NM_006579.3(EBP):c.201_203dup (p.Cys67dup) rs797045542
NM_006579.3(EBP):c.203G>A (p.Trp68Ter) rs2061771803
NM_006579.3(EBP):c.204G>T (p.Trp68Cys) rs587783601
NM_006579.3(EBP):c.206T>G (p.Phe69Cys) rs2147154702
NM_006579.3(EBP):c.214T>C (p.Cys72Arg) rs587783602
NM_006579.3(EBP):c.218G>A (p.Gly73Glu) rs587783603
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.278A>T (p.Asp93Val)
NM_006579.3(EBP):c.283G>A (p.Ala95Thr) rs2147154752
NM_006579.3(EBP):c.292_296del (p.Ser98fs) rs587783604
NM_006579.3(EBP):c.299T>C (p.Leu100Pro) rs587783605
NM_006579.3(EBP):c.301+2T>A rs587783606
NM_006579.3(EBP):c.303G>T (p.Trp101Cys) rs587783607
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.311A>G (p.Tyr104Cys) rs587783610
NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)
NM_006579.3(EBP):c.314C>A (p.Ala105Asp) rs587783611
NM_006579.3(EBP):c.320G>A (p.Gly107Glu) rs587783612
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.331T>C (p.Tyr111His) rs587783614
NM_006579.3(EBP):c.338+1G>C rs1569479885
NM_006579.3(EBP):c.338+1G>T rs1569479885
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly) rs797045545
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.470-3C>G
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) rs587783616
NM_006579.3(EBP):c.481G>A (p.Gly161Arg) rs587783617
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.527A>G (p.His176Arg) rs587783618
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.632T>G (p.Leu211Arg) rs587783619
NM_006579.3(EBP):c.684GAA[1] (p.Lys229del) rs587783620
NM_006579.3(EBP):c.87G>A (p.Trp29Ter) rs104894798

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