ClinVar Miner

List of variants reported as likely benign for Familial hyperinsulinism by Illumina Laboratory Services, Illumina

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_175914.5(HNF4A):c.*1975G>A rs140719706 0.01038
NM_175914.5(HNF4A):c.*521G>A rs111466682 0.00755
NM_175914.5(HNF4A):c.*2256C>G rs537829031 0.00694
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00602
NM_175914.5(HNF4A):c.*2786C>T rs113417800 0.00409
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00340
NM_175914.5(HNF4A):c.*2656G>A rs146992858 0.00312
NM_175914.5(HNF4A):c.*393G>A rs190373692 0.00267
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00243
NM_175914.5(HNF4A):c.*568G>A rs142417840 0.00220
NM_175914.5(HNF4A):c.*785G>A rs557646293 0.00213
NM_175914.5(HNF4A):c.*1095G>A rs192208246 0.00195
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00034
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_175914.5(HNF4A):c.*427G>T rs144306069 0.00014
NM_175914.5(HNF4A):c.*2182G>A rs138556808 0.00005
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.*657G>A rs3212209
NM_175914.5(HNF4A):c.*76G>T rs11574743

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