ClinVar Miner

List of variants studied for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome by Baylor Genetics

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter) rs200788163 0.00001
NM_017934.7(PHIP):c.1507C>T (p.Arg503Ter) rs1411448554
NM_017934.7(PHIP):c.2499AGA[2] (p.Glu836del) rs765827406
NM_017934.7(PHIP):c.3610A>G (p.Thr1204Ala) rs764645984
NM_017934.7(PHIP):c.4495G>A (p.Glu1499Lys) rs1483958249
NM_017934.7(PHIP):c.4631-2A>T rs1773759539
NM_017934.7(PHIP):c.4661C>T (p.Ala1554Val) rs776659876
NM_017934.7(PHIP):c.5255A>T (p.Glu1752Val)

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