ClinVar Miner

List of variants reported as pathogenic for autosomal recessive spondylocostal dysostosis by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001009994.3(RIPPLY2):c.240-4T>G rs370933531 0.00074
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_203486.3(DLL3):c.945_946del (p.Ala317fs) rs786200900 0.00004
NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr) rs387906978 0.00003
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp) rs104894676 0.00002
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter) rs104894675 0.00001
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) rs71647808
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val) rs71647806
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs) rs113994158
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter) rs118204035
NM_001040167.2(LFNG):c.372del (p.Lys124fs) rs1562551396
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu) rs104894024
NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn) rs1211456697
NM_001165967.2(HES7):c.172A>G (p.Ile58Val) rs387906979
NM_001165967.2(HES7):c.400_409dup (p.Arg137fs) rs398122970
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp) rs113994160
NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp) rs104894674
NM_203486.3(DLL3):c.1291_1307dup (p.Pro437fs) rs777791545
NM_203486.3(DLL3):c.1440del (p.Pro481fs) rs786200903
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899
NM_203486.3(DLL3):c.618del (p.Cys207fs) rs786200902

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