ClinVar Miner

List of variants reported as benign for visceral heterotaxy by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_138295.5(PKD1L1):c.933T>C (p.Arg311=) rs75505495 0.02894
NM_138295.5(PKD1L1):c.6113C>G (p.Thr2038Ser) rs79131011 0.01486
NM_138295.5(PKD1L1):c.2667G>A (p.Ser889=)
NM_147191.1(MMP21):c.486C>T (p.Tyr162=)

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