ClinVar Miner

List of variants reported as uncertain significance for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln) rs563243550 0.00016
NM_017934.7(PHIP):c.1848A>C (p.Gln616His) rs200020269 0.00008
NM_017934.7(PHIP):c.499A>G (p.Thr167Ala) rs748247534 0.00005
NM_017934.7(PHIP):c.214C>T (p.Pro72Ser) rs1773329318 0.00001
NM_017934.7(PHIP):c.842G>A (p.Gly281Asp) rs372699478 0.00001
NM_017934.7(PHIP):c.1234G>A (p.Gly412Ser)
NM_017934.7(PHIP):c.1296G>T (p.Trp432Cys)
NM_017934.7(PHIP):c.1462G>T (p.Asp488Tyr) rs2127740532
NM_017934.7(PHIP):c.1525-8T>C
NM_017934.7(PHIP):c.2040G>C (p.Glu680Asp)
NM_017934.7(PHIP):c.2041G>A (p.Val681Ile)
NM_017934.7(PHIP):c.2201+2092G>A rs1769538513
NM_017934.7(PHIP):c.2474T>G (p.Val825Gly)
NM_017934.7(PHIP):c.2483G>A (p.Ser828Asn)
NM_017934.7(PHIP):c.2499AGA[2] (p.Glu836del) rs765827406
NM_017934.7(PHIP):c.2748G>C (p.Lys916Asn)
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_017934.7(PHIP):c.3326A>G (p.Asn1109Ser)
NM_017934.7(PHIP):c.3506T>C (p.Val1169Ala)
NM_017934.7(PHIP):c.3526A>T (p.Met1176Leu)
NM_017934.7(PHIP):c.3610A>G (p.Thr1204Ala) rs764645984
NM_017934.7(PHIP):c.3782+4A>C
NM_017934.7(PHIP):c.4042C>T (p.Leu1348Phe)
NM_017934.7(PHIP):c.4495G>A (p.Glu1499Lys) rs1483958249
NM_017934.7(PHIP):c.4546G>A (p.Val1516Ile) rs138108985
NM_017934.7(PHIP):c.4661C>T (p.Ala1554Val) rs776659876
NM_017934.7(PHIP):c.4846G>A (p.Ala1616Thr)
NM_017934.7(PHIP):c.4981A>G (p.Arg1661Gly)
NM_017934.7(PHIP):c.5020T>G (p.Leu1674Val)
NM_017934.7(PHIP):c.5112T>G (p.Asp1704Glu)
NM_017934.7(PHIP):c.5255A>T (p.Glu1752Val)
NM_017934.7(PHIP):c.5269G>T (p.Glu1757Ter) rs2127677390
NM_017934.7(PHIP):c.631G>A (p.Ala211Thr) rs1371788682
NM_017934.7(PHIP):c.746T>A (p.Ile249Asn) rs2127748441
NM_017934.7(PHIP):c.895C>T (p.Leu299Phe)

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