List of variants reported as pathogenic for congenital limb malformation by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005199.5(CHRNG):c.459dup (p.Val154fs)	rs774279192	0.00048
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)	rs747067203	0.00011
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)	rs751050956	0.00005
NM_001198800.3(ASCC1):c.626+1G>A	rs747595523	0.00001
NM_003632.3(CNTNAP1):c.2668C>T (p.Arg890Ter)	rs144659252	0.00001
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)	rs766643461
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter)	rs746994660
NM_003334.4(UBA1):c.1731C>T (p.Asn577=)	rs80356547
NM_004247.4(EFTUD2):c.1058+1G>A	rs1085307647
NM_004247.4(EFTUD2):c.2562-2_2562-1del	rs2050474390
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter)	rs397515415
NM_133433.4(NIPBL):c.1555G>T (p.Gly519Ter)
NM_133433.4(NIPBL):c.2291del (p.Asn764fs)	rs1580396767
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)	rs398124465

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