ClinVar Miner

List of variants in gene AIP reported as pathogenic for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NC_000011.9:g.(?_67250360)_(67250738_?)del
NC_000011.9:g.(?_67250360)_(67254666_?)del
NC_000011.9:g.(?_67250360)_(67258464_?)del
NM_003977.4(AIP):c.343dup (p.Leu115fs) rs2134253352
NM_003977.4(AIP):c.376C>T (p.Gln126Ter)
NM_003977.4(AIP):c.41_47del (p.Gln14fs)
NM_003977.4(AIP):c.427C>T (p.Gln143Ter)
NM_003977.4(AIP):c.493C>T (p.Gln165Ter)
NM_003977.4(AIP):c.504G>A (p.Trp168Ter) rs2134254613
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.4(AIP):c.553G>T (p.Glu185Ter) rs925348950
NM_003977.4(AIP):c.600del (p.Lys201fs) rs2134254903
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.4(AIP):c.663del (p.Glu222fs) rs1865878972
NM_003977.4(AIP):c.673C>T (p.Gln225Ter) rs2134255291
NM_003977.4(AIP):c.685C>T (p.Gln229Ter) rs1400972107
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) rs267606568
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.816del (p.Lys273fs)
NM_003977.4(AIP):c.85C>T (p.Gln29Ter) rs969013352
NM_003977.4(AIP):c.874del (p.Leu292fs)

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