ClinVar Miner

List of variants studied for Catel-Manzke syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_014305.4(TGDS):c.268_269GA[1] (p.Lys91fs) rs727502809
NM_014305.4(TGDS):c.269A>G (p.Glu90Gly) rs724160004
NM_014305.4(TGDS):c.294T>G (p.Phe98Leu) rs727502808
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952
NM_014305.4(TGDS):c.700T>C (p.Tyr234His) rs544436734
NM_014305.4(TGDS):c.892A>G (p.Asn298Asp) rs724160005

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