ClinVar Miner

List of variants reported as likely pathogenic for achondrogenesis type IB by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val) rs769319202 0.00001
NM_000112.4(SLC26A2):c.1157C>G (p.Ala386Gly) rs386833493
NM_000112.4(SLC26A2):c.1277T>A (p.Ile426Asn) rs2113698521
NM_000112.4(SLC26A2):c.1277T>C (p.Ile426Thr) rs2113698521
NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg) rs2113698845
NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter) rs2113698870
NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)
NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr) rs1179580843
NM_000112.4(SLC26A2):c.2065_2066del (p.Thr689fs) rs773490671
NM_000112.4(SLC26A2):c.2105dup (p.Glu703fs) rs1581232733
NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr) rs759438521
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg) rs377432261

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