ClinVar Miner

List of variants in gene PAFAH1B1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 8
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HGVS dbSNP
NM_000430.4(PAFAH1B1):c.1188C>T (p.Val396=) rs587784246
NM_000430.4(PAFAH1B1):c.192+15T>C rs587784255
NM_000430.4(PAFAH1B1):c.33-3C>G rs587784260
NM_000430.4(PAFAH1B1):c.33-8_33-7delinsAG rs1555526239
NM_000430.4(PAFAH1B1):c.350A>G (p.His117Arg) rs797045860
NM_000430.4(PAFAH1B1):c.58C>A (p.Arg20Ser) rs975702095
NM_000430.4(PAFAH1B1):c.687A>T (p.Thr229=) rs587784283
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile) rs769280736

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