ClinVar Miner

List of variants studied for opsismodysplasia

Included ClinVar conditions (1):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001567.4(INPPL1):c.1091-25A>G rs2276047 0.32600
NM_001567.4(INPPL1):c.987A>G (p.Ser329=) rs2276048 0.27525
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.36C>A (p.Gly12=) rs1011212998 0.00033
NM_001567.4(INPPL1):c.915G>C (p.Lys305Asn) rs370029165 0.00007
NM_001567.4(INPPL1):c.1636G>A (p.Val546Ile) rs376117918 0.00004
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.768_769del (p.Glu258fs) rs746647683 0.00001
NM_001567.3(INPPL1):c.[1115delG];[2331C>G]
NM_001567.3(INPPL1):c.[1687_1691delACCTC;35dupG]
NM_001567.3(INPPL1):c.[2415+1G>A;768_769delAG]
NM_001567.3(INPPL1):c.[24_39del16;753G>C]
NM_001567.4(INPPL1):c.1012G>T (p.Val338Leu)
NM_001567.4(INPPL1):c.1108_1155del (p.Ser370_Lys385del) rs1565388201
NM_001567.4(INPPL1):c.115_128del (p.Gly39fs) rs2135414009
NM_001567.4(INPPL1):c.1201C>T (p.Arg401Trp) rs397514511
NM_001567.4(INPPL1):c.1397T>A (p.Ile466Asn)
NM_001567.4(INPPL1):c.1497+5G>C
NM_001567.4(INPPL1):c.1845dup (p.Ile616fs) rs1135401750
NM_001567.4(INPPL1):c.1945C>T (p.Arg649Ter)
NM_001567.4(INPPL1):c.1963A>T (p.Ile655Phe) rs752247882
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.2121T>C (p.Tyr707=)
NM_001567.4(INPPL1):c.2164T>A (p.Phe722Ile) rs397514512
NM_001567.4(INPPL1):c.2213-2A>C rs1948918434
NM_001567.4(INPPL1):c.2326+9C>T rs370540380
NM_001567.4(INPPL1):c.2356C>T (p.Gln786Ter) rs2135438529
NM_001567.4(INPPL1):c.2415+1G>A rs655423
NM_001567.4(INPPL1):c.24_39del (p.Gly9fs) rs878853119
NM_001567.4(INPPL1):c.2633G>A (p.Arg878His)
NM_001567.4(INPPL1):c.278_282del (p.Gln93fs) rs797044469
NM_001567.4(INPPL1):c.2839C>T (p.Pro947Ser)
NM_001567.4(INPPL1):c.306C>G (p.Tyr102Ter) rs779291537
NM_001567.4(INPPL1):c.3087C>G (p.His1029Gln)
NM_001567.4(INPPL1):c.3461C>G (p.Pro1154Arg)
NM_001567.4(INPPL1):c.3466del (p.Arg1156fs) rs760925109
NM_001567.4(INPPL1):c.3549_3550insA (p.Glu1184fs) rs1949036008
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.625C>T (p.Arg209Cys)
NM_001567.4(INPPL1):c.724C>T (p.Pro242Ser)
NM_001567.4(INPPL1):c.768del (p.Glu258fs) rs797044468
NM_001567.4(INPPL1):c.939+1G>A rs1948786646
NM_001567.4(INPPL1):c.94_121del (p.Glu32fs) rs797044470

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