ClinVar Miner

List of variants reported as pathogenic for achondrogenesis by Invitae

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.438dup (p.Ala147fs)
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter)
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter)
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter)
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) rs1566859264
NM_004239.4(TRIP11):c.615_616CT[1] (p.Asn205_Ser206insTer) rs1566867763
NM_004239.4(TRIP11):c.986_987GA[1] (p.Asp330fs)

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