ClinVar Miner

List of variants reported as likely benign for achondrogenesis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.*1892dup rs148778566 0.04587
NM_004239.4(TRIP11):c.*387del rs148331500 0.02205
NM_000112.4(SLC26A2):c.*4799G>A rs72832119 0.01211
NM_004239.4(TRIP11):c.*288C>A rs61988386 0.01041
NM_000112.4(SLC26A2):c.*4870dup rs368872246 0.00983
NM_000112.4(SLC26A2):c.*2873C>T rs114919633 0.00970
NM_000112.4(SLC26A2):c.-183G>C rs540241474 0.00338
NM_000112.4(SLC26A2):c.*3507T>A rs180966130 0.00309
NM_000112.4(SLC26A2):c.*205G>A rs115383424 0.00280
NM_000112.4(SLC26A2):c.*443T>C rs115977282 0.00246
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00238
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481 0.00236
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00232
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_004239.4(TRIP11):c.5056+11C>T rs199549473 0.00170
NM_000112.4(SLC26A2):c.*4659G>T rs143908264 0.00169
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887 0.00167
NM_000112.4(SLC26A2):c.*1970G>T rs147208348 0.00148
NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu) rs114300046 0.00145
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552 0.00103
NM_004239.4(TRIP11):c.*290A>G rs189206458 0.00081
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390 0.00050
NM_000557.5(GDF5):c.-39C>T rs149907722 0.00029
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454 0.00025
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) rs137914270 0.00016
NM_000557.5(GDF5):c.*387T>C rs553655935 0.00004
NM_000557.5(GDF5):c.*389C>T rs535023630 0.00004
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00004
NM_000112.4(SLC26A2):c.*3918C>T rs192457706 0.00003
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) rs201112407 0.00001
NM_000112.4(SLC26A2):c.*2476T>C rs570682108
NM_000112.4(SLC26A2):c.*4419A>C rs140200789
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_004239.4(TRIP11):c.*1339dup rs35251290

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