List of variants reported as pathogenic for dysostosis by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)	rs121918505
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)	rs1588307140
NM_001174147.2(LMX1B):c.917_926del (p.Met306fs)	rs1588309269
NM_001174147.2(LMX1B):c.932del (p.Pro311fs)	rs1588309293
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)	rs1555750816
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs)	rs1587713892
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs)	rs1587713866
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs)	rs1554679889
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)	rs199470477
NM_181486.4(TBX5):c.1158dup (p.Ser387fs)	rs1064795870
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)	rs863223788

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