ClinVar Miner

List of variants reported as uncertain significance for achondrogenesis by Invitae

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275
NM_000112.3(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143
NM_000112.3(SLC26A2):c.1234G>A (p.Val412Ile)
NM_000112.3(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254
NM_000112.3(SLC26A2):c.2164T>C (p.Ser722Pro)
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000112.3(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147
NM_000112.3(SLC26A2):c.892C>A (p.His298Asn)
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) rs376669587
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr)
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser)
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) rs1018806781
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn)
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg)
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu)
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly)
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn)
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr)
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu)
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) rs550137986
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys)
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser)

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