ClinVar Miner

List of variants reported as likely pathogenic for Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992

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