ClinVar Miner

List of variants studied for dysostosis by Center for Personalized Medicine, Children's Hospital Los Angeles

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) rs142594314 0.00128
NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs) rs1554080460
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130

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