List of variants reported as benign for diazoxide-sensitive diffuse hyperinsulinism by Illumina Laboratory Services, Illumina

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Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu)	rs1049434	0.66103
NM_003051.4(SLC16A1):c.*1414C>T	rs7169	0.66095
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)	rs1048099	0.47531
NM_000352.6(ABCC8):c.579+14C>T	rs2301703	0.46493
NM_000352.6(ABCC8):c.1686C>T (p.His562=)	rs1799857	0.44260
NM_000525.4(KCNJ11):c.*441T>C	rs2285676	0.43747
NM_000352.6(ABCC8):c.2117-3C>T	rs1799854	0.36733
NM_000162.5(GCK):c.1253+8C>T	rs2908274	0.34109
NM_003051.4(SLC16A1):c.*1942T>C	rs9429505	0.31556
NM_000162.5(GCK):c.*332G>A	rs13306388	0.18894
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)	rs1799858	0.16150
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)	rs1805036	0.14682
NM_005327.7(HADH):c.-38T>C	rs17550794	0.13904
NM_005271.5(GLUD1):c.942A>G (p.Leu314=)	rs9421572	0.08685
NM_005327.7(HADH):c.*109T>A	rs221347	0.07950
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)	rs8192695	0.06691
NM_000162.5(GCK):c.-84C>G	rs13306391	0.06548
NM_000162.5(GCK):c.*477C>T	rs2908275	0.06179
NM_005327.7(HADH):c.636+13G>A	rs17511214	0.04139
NM_005327.4(HADH):c.*818A>G	rs17511319	0.03973
NM_000352.6(ABCC8):c.-49G>C	rs77498130	0.03452
NM_005271.5(GLUD1):c.1060-10T>A	rs17096421	0.03225
NM_005327.4(HADH):c.-71C>T	rs760202	0.02185
NM_005327.4(HADH):c.-193G>A	rs10017687	0.02168
NM_000162.5(GCK):c.*797C>T	rs2908276	0.01885
NM_005271.5(GLUD1):c.342T>C (p.His114=)	rs142544510	0.01392
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)	rs149861153	0.01269
NM_005327.4(HADH):c.-65G>A	rs28703310	0.01115
NM_005327.7(HADH):c.662G>A (p.Arg221His)	rs76476980	0.00358
NM_005327.4(HADH):c.-102G>A	rs182097151	0.00354
NM_005327.7(HADH):c.*514A>G	rs183594888	0.00020
NM_000162.5(GCK):c.213C>T (p.Val71=)	rs143128547	0.00014
NM_005327.7(HADH):c.133-15C>T	rs190144364	0.00013
NM_000162.5(GCK):c.-217C>G	rs73691419
NM_000162.5(GCK):c.-267G>T	rs59914952
NM_000525.4(KCNJ11):c.*62G>A	rs5213

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