ClinVar Miner

List of variants reported as benign for Vertebral, cardiac, renal, and limb defects syndrome 1 by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_012205.3(HAAO):c.81-10C>T rs3816184 0.80170
NM_012205.3(HAAO):c.109A>G (p.Ile37Val) rs3816183 0.79336
NM_012205.3(HAAO):c.440+19C>T rs2241850 0.35102
NM_012205.3(HAAO):c.630+34C>T rs13413507 0.09999
NM_012205.3(HAAO):c.124A>T (p.Thr42Ser) rs3816182

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