ClinVar Miner

List of variants in gene HDAC4 reported as uncertain significance for 2q37 microdeletion syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu) rs201187772 0.00030
NM_001378414.1(HDAC4):c.155G>A (p.Arg52His) rs777568201 0.00016
NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu) rs151167488 0.00006
NM_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter) rs2040205774
NM_001378414.1(HDAC4):c.2414dup (p.Gly806fs) rs748900140
NM_001378414.1(HDAC4):c.490+56_490+120del

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