ClinVar Miner

List of variants in gene combination ASPA, SPATA22 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp) rs745832703 0.00001
NM_000049.4(ASPA):c.321_322del (p.Ser108fs) rs1289890879
NM_000049.4(ASPA):c.385G>A (p.Glu129Lys) rs773049803
NM_000049.4(ASPA):c.631G>T (p.Glu211Ter) rs1555539903
NM_000049.4(ASPA):c.677T>C (p.Ile226Thr)
NM_000049.4(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144

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