ClinVar Miner

List of variants in gene PAFAH1B1 reported as pathogenic by OMIM

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Total variants: 10
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HGVS dbSNP
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg) rs121434482
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro) rs121434484
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro) rs121434488
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro) rs121434490
NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser) rs121434486
NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His) rs121434485
NM_000430.4(PAFAH1B1):c.991_1002+10del rs1567561137

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