List of variants studied for autosomal recessive spondylocostal dysostosis by GeneReviews

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Total variants: 15

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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_001039958.1(MESP2):c.535GGGCAGGGGCAA[2_4]	rs397507446
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly)	rs71647809
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)	rs118204034
NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu)	rs113994156
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.385A>T (p.Ile129Phe)	rs113994157
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs)	rs113994158
NM_001039958.2(MESP2):c.670T>C (p.Ser224Pro)	rs118204033
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)	rs118204035
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)	rs104894024
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)	rs113994160
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys)	rs587777113

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