ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.*288C>A rs61988386 0.01041
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_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887 0.00167
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_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454 0.00025
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) rs137914270 0.00016
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00004
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) rs201112407 0.00001

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