ClinVar Miner

List of variants in gene AIP reported by Sema4, Sema4

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020 0.03152
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993 0.00016
NM_003977.4(AIP):c.906G>A (p.Val302=) rs142912418 0.00013
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_003977.4(AIP):c.973C>T (p.Arg325Trp) rs765927395 0.00010
NM_003977.4(AIP):c.724C>G (p.Leu242Val) rs772782309 0.00008
NM_003977.4(AIP):c.486G>A (p.Thr162=) rs555078670 0.00005
NM_003977.4(AIP):c.468+13C>T rs375823655 0.00004
NM_003977.4(AIP):c.70G>C (p.Glu24Gln) rs267606568 0.00004
NM_003977.4(AIP):c.786C>T (p.Asp262=) rs777095131 0.00004
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716 0.00003
NM_003977.4(AIP):c.325G>A (p.Ala109Thr) rs1865848427 0.00001
NM_003977.4(AIP):c.327G>A (p.Ala109=) rs751946476 0.00001
NM_003977.4(AIP):c.35G>A (p.Gly12Glu) rs1357679684 0.00001
NM_003977.4(AIP):c.393C>T (p.Ser131=) rs199558504 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) rs777083581 0.00001
NM_003977.4(AIP):c.294C>T (p.Tyr98=) rs2134253261
NM_003977.4(AIP):c.630G>A (p.Lys210=) rs937672207
NM_003977.4(AIP):c.886C>T (p.Pro296Ser) rs1038039525

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