List of variants reported as pathogenic for opsismodysplasia by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001567.4(INPPL1):c.1201C>T (p.Arg401Trp)	rs397514511
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.2164T>A (p.Phe722Ile)	rs397514512
NM_001567.4(INPPL1):c.2415+1G>A	rs655423
NM_001567.4(INPPL1):c.278_282del (p.Gln93fs)	rs797044469
NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter)	rs397514509
NM_001567.4(INPPL1):c.768del (p.Glu258fs)	rs797044468
NM_001567.4(INPPL1):c.94_121del (p.Glu32fs)	rs797044470

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