ClinVar Miner

List of variants in gene HNF4A studied for Hyperinsulinism, Dominant

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
NM_175914.5(HNF4A):c.*1089del rs749515492
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_175914.5(HNF4A):c.*2600T>C rs886056689
NM_175914.5(HNF4A):c.*2674_*2675del rs886056691
NM_175914.5(HNF4A):c.*2676dup rs886056692
NM_175914.5(HNF4A):c.*2677_*2683del rs886056693
NM_175914.5(HNF4A):c.*2677dup rs886056694
NM_175914.5(HNF4A):c.*2678dup rs761222838
NM_175914.5(HNF4A):c.*2679del rs886056695
NM_175914.5(HNF4A):c.*2698_*2704del rs886056697
NM_175914.5(HNF4A):c.*2703del rs11450239
NM_175914.5(HNF4A):c.*2703dup rs11450239
NM_175914.5(HNF4A):c.*2707del rs886056698
NM_175914.5(HNF4A):c.*2707dup rs886056699
NM_175914.5(HNF4A):c.*2777del rs886056700
NM_175914.5(HNF4A):c.*2796AC[1] rs548863430
NM_175914.5(HNF4A):c.*3142del rs141563916
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_175914.5(HNF4A):c.50-4791_50-4788del rs886056679

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