ClinVar Miner

List of variants studied for opsismodysplasia by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001567.4(INPPL1):c.2213-2A>C rs1948918434
NM_001567.4(INPPL1):c.2356C>T (p.Gln786Ter) rs2135438529
NM_001567.4(INPPL1):c.2633G>A (p.Arg878His)
NM_001567.4(INPPL1):c.306C>G (p.Tyr102Ter) rs779291537
NM_001567.4(INPPL1):c.3087C>G (p.His1029Gln)
NM_001567.4(INPPL1):c.3551_3552+1del rs777012152
NM_001567.4(INPPL1):c.724C>T (p.Pro242Ser)

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