List of variants studied for Vertebral, cardiac, renal, and limb defects syndrome 1

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Total variants: 17

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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.21del (p.Arg8fs)	rs1227604776	0.00002
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.124A>T (p.Thr42Ser)	rs3816182
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.243+1G>A	rs1232096291
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp)	rs1672152382
NM_012205.3(HAAO):c.431T>C (p.Ile144Thr)
NM_012205.3(HAAO):c.43del (p.Arg15fs)	rs1558680405
NM_012205.3(HAAO):c.524G>C (p.Arg175Pro)
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)	rs1135401743
NM_018161.5(NADSYN1):c.799-2A>G

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