ClinVar Miner

List of variants reported as 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: 44
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HGVS dbSNP gnomAD frequency
NM_004239.4(TRIP11):c.*1060C>T rs10142576 0.65231
NM_004239.4(TRIP11):c.*430A>G rs12587248 0.33383
NM_004239.4(TRIP11):c.*952A>T rs1133441 0.29427
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340 0.29281
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) rs17127898 0.06056
NM_004239.4(TRIP11):c.*1744G>A rs11848512 0.03789
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) rs11851376 0.03105
NM_004239.4(TRIP11):c.*345T>C rs17127786 0.02579
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837 0.02457
NM_004239.4(TRIP11):c.*1374A>C rs74801826 0.02226
NM_004239.4(TRIP11):c.*1554T>A rs11848545 0.02207
NM_004239.4(TRIP11):c.-331C>G rs1955683 0.01570
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249 0.01569
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719 0.01567
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) rs35007347 0.01467
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) rs34967261 0.01405
NM_004239.4(TRIP11):c.-365C>G rs74071824 0.01403
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) rs34151071 0.01402
NM_004239.4(TRIP11):c.1527+6A>G rs17127844 0.01376
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) rs7152887 0.01366
NM_004239.4(TRIP11):c.*930C>T rs74071653 0.01332
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) rs34699762 0.01322
NM_004239.4(TRIP11):c.202-7T>A rs56034853 0.01303
NM_004239.4(TRIP11):c.*610A>C rs111671120 0.01218
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) rs34805848 0.01111
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) rs34919898 0.01101
NM_004239.4(TRIP11):c.*246A>G rs111335604 0.01067
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672 0.00895
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842 0.00729
NM_004239.4(TRIP11):c.*749G>A rs150189603 0.00726
NM_004239.4(TRIP11):c.*664C>T rs138892598 0.00717
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380 0.00687
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498 0.00686
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380 0.00682
NM_004239.4(TRIP11):c.*163C>T rs142907939 0.00562
NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=) rs35798420 0.00558
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) rs59635749 0.00410
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) rs80200454 0.00410
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala) rs2273183 0.00188
NM_004239.4(TRIP11):c.-61C>T rs78222479 0.00145
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213 0.00042
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112 0.00026
NM_004239.4(TRIP11):c.*387C>A rs375437590

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