ClinVar Miner

List of variants reported as uncertain significance for Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome by Revvity Omics, Revvity

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_033310.3(KCNK4):c.437T>C (p.Leu146Pro) rs764383329 0.00014
NM_033310.3(KCNK4):c.760G>A (p.Gly254Arg) rs777868070 0.00002
NM_033310.3(KCNK4):c.366_369delinsCTGCCGG (p.Tyr123delinsCysArg) rs2495688025
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_033310.3(KCNK4):c.964C>T (p.Pro322Ser) rs576679008

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