List of variants in gene INPPL1 reported as pathogenic for bone disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001567.4(INPPL1):c.768_769del (p.Glu258fs)	rs746647683	0.00001
NM_001567.3(INPPL1):c.[1115delG];[2331C>G]
NM_001567.3(INPPL1):c.[2415+1G>A;768_769delAG]
NM_001567.4(INPPL1):c.1201C>T (p.Arg401Trp)	rs397514511
NM_001567.4(INPPL1):c.1845dup (p.Ile616fs)	rs1135401750
NM_001567.4(INPPL1):c.1975C>T (p.Pro659Ser)	rs397514510
NM_001567.4(INPPL1):c.1976C>T (p.Pro659Leu)	rs397514508
NM_001567.4(INPPL1):c.2071C>T (p.Arg691Trp)	rs878853123
NM_001567.4(INPPL1):c.2164T>A (p.Phe722Ile)	rs397514512
NM_001567.4(INPPL1):c.2213-2A>C	rs1948918434
NM_001567.4(INPPL1):c.2415+1G>A	rs655423
NM_001567.4(INPPL1):c.278_282del (p.Gln93fs)	rs797044469
NM_001567.4(INPPL1):c.306C>G (p.Tyr102Ter)	rs779291537
NM_001567.4(INPPL1):c.3551_3552+1del	rs777012152
NM_001567.4(INPPL1):c.3562dup (p.Leu1188fs)
NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter)	rs397514509
NM_001567.4(INPPL1):c.768del (p.Glu258fs)	rs797044468
NM_001567.4(INPPL1):c.939+1G>A	rs1948786646

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