List of variants reported as uncertain significance for Hyperinsulinemic hypoglycemia, familial, 4 by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_005327.4(HADH):c.-102G>A	rs182097151	0.00354
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)	rs140413151	0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His)	rs1051519	0.00195
NM_005327.7(HADH):c.*377G>A	rs148809781	0.00084
NM_005327.7(HADH):c.*600C>T	rs544321475	0.00077
NM_005327.7(HADH):c.*168A>T	rs532458283	0.00062
NM_005327.4(HADH):c.-203A>G	rs376591232	0.00049
NM_005327.7(HADH):c.349G>C (p.Val117Leu)	rs146732064	0.00035
NM_005327.7(HADH):c.*514A>G	rs183594888	0.00020
NM_005327.7(HADH):c.809C>T (p.Thr270Met)	rs577954688	0.00017
NM_005327.7(HADH):c.133-15C>T	rs190144364	0.00013
NM_005327.7(HADH):c.*142G>A	rs560215584	0.00011
NM_005327.7(HADH):c.-34C>T	rs748286204	0.00009
NM_005327.7(HADH):c.*305T>A	rs3822294	0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=)	rs748623569	0.00008
NM_005327.7(HADH):c.*335C>A	rs780532720	0.00006
NM_005327.7(HADH):c.132+7G>T	rs534966818	0.00005
NM_005327.7(HADH):c.*59G>A	rs529762487	0.00004
NM_005327.7(HADH):c.710-14C>T	rs185267497	0.00004
NM_005327.7(HADH):c.889G>A (p.Val297Ile)	rs376876153	0.00003
NM_005327.4(HADH):c.-86G>T	rs528952923	0.00001
NM_005327.7(HADH):c.*279C>A	rs1290272212	0.00001
NM_005327.7(HADH):c.*383G>C	rs550706321	0.00001
NM_005327.7(HADH):c.-36C>T	rs746854470	0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=)	rs148846625	0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=)	rs781319494	0.00001
NM_005327.7(HADH):c.823G>A (p.Asp275Asn)	rs150766162	0.00001
NM_005327.4(HADH):c.-195A>C	rs886058979
NM_005327.4(HADH):c.-195A>G	rs886058979
NM_005327.4(HADH):c.-56C>A	rs770197760
NM_005327.7(HADH):c.132+6C>G	rs772843585
NM_005327.7(HADH):c.21G>A (p.Gln7=)	rs886058980
NM_005327.7(HADH):c.264C>T (p.Ala88=)	rs201324954
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)	rs780574282
NM_005327.7(HADH):c.825T>G (p.Asp275Glu)	rs1736344235

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