ClinVar Miner

List of variants reported as benign for Heterotaxy, visceral, 5, autosomal by Illumina Laboratory Services, Illumina

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Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.57001
NM_018055.5(NODAL):c.*740T>C rs2279253 0.46278
NM_018055.5(NODAL):c.*722G>C rs2279254 0.43411
NM_018055.5(NODAL):c.193+12C>T rs10999338 0.35588
NM_018055.5(NODAL):c.*479C>T rs80138796 0.01102
NM_018055.5(NODAL):c.*886G>A rs58468830 0.01100
NM_018055.5(NODAL):c.*62A>T rs76889088 0.01097
NM_018055.5(NODAL):c.*404T>C rs77232076 0.01015
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959 0.00714
NM_018055.5(NODAL):c.216C>T (p.Asn72=) rs138195571 0.00124
NM_018055.5(NODAL):c.357C>T (p.Pro119=) rs77151171 0.00062
NM_018055.5(NODAL):c.*356G>A rs556853359

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