ClinVar Miner

List of variants studied for opsismodysplasia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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.518+14C>G rs56353029 0.03122
NM_001567.4(INPPL1):c.909G>C (p.Lys303Asn) rs17847215 0.00985
NM_001567.4(INPPL1):c.3244G>A (p.Gly1082Arg) rs377723450 0.00004
NM_001567.4(INPPL1):c.349G>A (p.Val117Ile) rs1354137878 0.00001
NM_001567.4(INPPL1):c.3563T>G (p.Leu1188Arg) rs761199581 0.00001
NM_001567.4(INPPL1):c.465G>A (p.Gly155=) rs760197203 0.00001
NM_001567.4(INPPL1):c.1012G>T (p.Val338Leu)

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