ClinVar Miner

List of variants studied for pseudoachondroplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000095.3(COMP):c.2267A>G (p.Gln756Arg) rs61752496 0.06295
NM_000095.3(COMP):c.*1G>C rs77185131 0.06291
NM_000095.3(COMP):c.1755G>A (p.Thr585=) rs34467947 0.04927
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) rs61739916 0.03133
NM_000095.3(COMP):c.511G>A (p.Ala171Thr) rs115338183 0.01840
NM_000095.3(COMP):c.1956C>T (p.Asn652=) rs10421797 0.00834
NM_000095.3(COMP):c.762+12C>A rs199733531 0.00463
NM_000095.3(COMP):c.*92G>A rs9407 0.00384
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_000095.3(COMP):c.218-15C>A rs542886784 0.00199
NC_000019.10:g.18782760C>G rs537572167 0.00130
NM_000095.3(COMP):c.*15A>G rs201937857 0.00126
NM_000095.3(COMP):c.-9G>T rs186562511 0.00123
NM_000095.3(COMP):c.279C>A (p.Pro93=) rs139319996 0.00093
NM_000095.3(COMP):c.2152C>A (p.Arg718=) rs28936368 0.00081
NM_000095.3(COMP):c.218-7C>G rs554031979 0.00051
NM_000095.3(COMP):c.360C>T (p.Gly120=) rs150820366 0.00044
NM_000095.3(COMP):c.700C>T (p.Pro234Ser) rs557483957 0.00024
NM_000095.3(COMP):c.868-4C>T rs529806631 0.00019
NM_000095.3(COMP):c.410T>C (p.Phe137Ser) rs757094319 0.00017
NM_000095.3(COMP):c.468G>T (p.Pro156=) rs202241721 0.00017
NM_000095.3(COMP):c.-15C>T rs374273743 0.00010
NM_000095.3(COMP):c.1894G>A (p.Glu632Lys) rs144170209 0.00010
NM_000095.3(COMP):c.2213G>A (p.Arg738His) rs766913050 0.00009
NM_000095.3(COMP):c.11A>C (p.Asp4Ala) rs370458957 0.00007
NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) rs150534218 0.00007
NM_000095.3(COMP):c.924C>T (p.Ile308=) rs199596155 0.00007
NM_000095.3(COMP):c.87C>T (p.Asp29=) rs759794906 0.00006
NM_000095.3(COMP):c.1803T>C (p.Phe601=) rs753120962 0.00004
NM_000095.3(COMP):c.763-6C>G rs886054303 0.00004
NM_000095.3(COMP):c.1200C>T (p.Gly400=) rs201063220 0.00003
NM_000095.3(COMP):c.1590C>A (p.Asp530Glu) rs759687021 0.00003
NM_000095.3(COMP):c.566A>G (p.His189Arg) rs199792797 0.00003
NM_000095.3(COMP):c.643G>C (p.Gly215Arg) rs768437153 0.00003
NM_000095.3(COMP):c.867+11G>A rs776412620 0.00003
NM_000095.3(COMP):c.217+15G>A rs1439169186 0.00001
NM_000095.3(COMP):c.235C>A (p.Arg79Ser) rs768907479 0.00001
NM_000095.3(COMP):c.314C>A (p.Thr105Lys) rs1377001812 0.00001
NM_000095.3(COMP):c.377C>T (p.Thr126Ile) rs886054305 0.00001
NM_000095.3(COMP):c.588G>A (p.Val196=) rs201165293 0.00001
NM_000095.3(COMP):c.850G>A (p.Glu284Lys) rs145895692 0.00001
NM_000095.3(COMP):c.*111A>G rs886054301
NM_000095.3(COMP):c.1406A>T (p.Asp469Val) rs766950514
NM_000095.3(COMP):c.1621C>G (p.Pro541Ala) rs1451255197
NM_000095.3(COMP):c.165+9C>A rs886054306
NM_000095.3(COMP):c.1668+13T>A rs74432818
NM_000095.3(COMP):c.1668+13T>G rs74432818
NM_000095.3(COMP):c.1836C>G (p.Val612=) rs886054302
NM_000095.3(COMP):c.195G>A (p.Thr65=) rs529891904
NM_000095.3(COMP):c.1993C>A (p.Arg665=) rs370202476
NM_000095.3(COMP):c.218-13C>A rs1225414726
NM_000095.3(COMP):c.218-14C>A rs150008764
NM_000095.3(COMP):c.218-14C>G rs150008764
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000095.3(COMP):c.218-6C>G rs534407430
NM_000095.3(COMP):c.327G>T (p.Ala109=) rs2055200293
NM_000095.3(COMP):c.345C>G (p.Pro115=) rs2055200093
NM_000095.3(COMP):c.381C>T (p.Asp127=) rs2055199653
NM_000095.3(COMP):c.582C>G (p.Asn194Lys) rs1352615165
NM_000095.3(COMP):c.620G>A (p.Gly207Asp) rs886054304
NM_000095.3(COMP):c.69G>A (p.Gln23=) rs886054307
NM_000095.3(COMP):c.862C>A (p.Arg288Ser) rs762455276

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