List of variants reported as pathogenic for Vertebral, cardiac, renal, and limb defects syndrome 1

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln)	rs1363954556	0.00001
NM_012205.3(HAAO):c.483dup (p.Asp162Ter)	rs527656756	0.00001
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys)	rs1672558841
NM_012205.3(HAAO):c.141C>A (p.His47Gln)	rs746702852
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp)	rs1672152382
NM_012205.3(HAAO):c.43del (p.Arg15fs)	rs1558680405
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)	rs1135401743

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