ClinVar Miner

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

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NM_000112.3(SLC26A2):c.*1631C>T rs7717795
NM_000112.3(SLC26A2):c.*1892dup rs148778566
NM_000112.3(SLC26A2):c.*2226C>T rs7722454
NM_000112.3(SLC26A2):c.*2612C>T rs28451300
NM_000112.3(SLC26A2):c.*3466C>G rs6888879
NM_000112.3(SLC26A2):c.*3670G>A rs76262875
NM_000112.3(SLC26A2):c.*394T>A rs140641532
NM_000112.3(SLC26A2):c.*4460G>T rs111742763
NM_000112.3(SLC26A2):c.*4870dup rs368872246
NM_000112.3(SLC26A2):c.*4982A>G rs74589369
NM_000112.3(SLC26A2):c.*590C>T rs1046710
NM_000112.3(SLC26A2):c.*600G>T rs143723255
NM_000112.3(SLC26A2):c.*938T>C rs150188068
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) rs61732052
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_004239.4(TRIP11):c.*1339dup rs35251290
NM_004239.4(TRIP11):c.*1374A>C rs74801826
NM_004239.4(TRIP11):c.*1554T>A rs11848545
NM_004239.4(TRIP11):c.*1744G>A rs11848512
NM_004239.4(TRIP11):c.*246A>G rs111335604
NM_004239.4(TRIP11):c.*345T>C rs17127786
NM_004239.4(TRIP11):c.*387del rs148331500
NM_004239.4(TRIP11):c.*610A>C rs111671120
NM_004239.4(TRIP11):c.*930C>T rs74071653
NM_004239.4(TRIP11):c.-331C>G rs1955683
NM_004239.4(TRIP11):c.-365C>G rs74071824
NM_004239.4(TRIP11):c.-61C>T rs78222479
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) rs17127898
NM_004239.4(TRIP11):c.1527+6A>G rs17127844
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) rs59635749
NM_004239.4(TRIP11):c.202-7T>A rs56034853
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) rs34699762
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) rs34967261
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) rs7152887
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) rs34805848
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) rs34151071
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) rs34919898
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) rs80200454
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) rs11851376
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719

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