List of variants studied for congenital limb malformation by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)	rs749040743	0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	rs777219451	0.00001
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)	rs775011495	0.00001
NC_000005.9:g.172252136_172274628del
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
NG_009873.1:g.(?_5000)_(160068_?)del
NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)	rs758247804
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)	rs1567263114
NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val)	rs1590572104
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg)	rs748876063
NM_006306.4(SMC1A):c.124A>G (p.Met42Val)	rs1556891104
NM_006306.4(SMC1A):c.3373A>G (p.Met1125Val)	rs1057519499
NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter)	rs866740147
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln)	rs587783978

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