ClinVar Miner

List of variants in gene HADH studied for Hyperinsulinemic hypoglycemia, familial, 4

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
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_005327.7(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.676T>C (p.Tyr226His) rs146036912 0.00010
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.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 0.00003
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.171C>A (p.Asp57Glu) rs137853102 0.00001
NM_005327.7(HADH):c.406A>G (p.Lys136Glu) rs1262186453 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_005327.7(HADH):c.*660_*661del
NM_005327.7(HADH):c.100G>C (p.Gly34Arg) rs779135938
NM_005327.7(HADH):c.132+6C>G rs772843585
NM_005327.7(HADH):c.21G>A (p.Gln7=) rs886058980
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs) rs766656997
NM_005327.7(HADH):c.434C>A (p.Ala145Asp)
NM_005327.7(HADH):c.547-3_549del rs2126234459
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.636+471G>T rs786200932
NM_005327.7(HADH):c.688G>A (p.Ala230Thr) rs780574282
NM_005327.7(HADH):c.710-822C>A rs183387994
NM_005327.7(HADH):c.773C>T (p.Pro258Leu) rs137853103
NM_005327.7(HADH):c.825T>G (p.Asp275Glu) rs1736344235

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