ClinVar Miner

List of variants in gene PHIP reported by Revvity Omics, Revvity

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017934.7(PHIP):c.1848A>C (p.Gln616His) rs200020269 0.00008
NM_017934.7(PHIP):c.2040G>C (p.Glu680Asp) rs567684136 0.00004
NM_017934.7(PHIP):c.1234G>A (p.Gly412Ser) rs1770841090 0.00001
NM_017934.7(PHIP):c.2041G>A (p.Val681Ile) rs753967999 0.00001
NM_017934.7(PHIP):c.2039_2040del (p.Glu680fs) rs2482042261
NM_017934.7(PHIP):c.2474T>G (p.Val825Gly) rs2481975318
NM_017934.7(PHIP):c.2483G>A (p.Ser828Asn) rs754624603
NM_017934.7(PHIP):c.2564G>A (p.Trp855Ter) rs2127718655
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523

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