List of variants reported as pathogenic for Vertebral, cardiac, renal, and limb defects syndrome 3

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)	rs144139747	0.00081
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)	rs368115694	0.00003
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg)	rs769220327	0.00001
NM_018161.5(NADSYN1):c.1819del (p.Val607fs)	rs1327307171
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter)	rs1008561025
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr)	rs764123669
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter)	rs1949650831

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