ClinVar Miner

List of variants in gene PAFAH1B1 reported as pathogenic for not provided

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Total variants: 16
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HGVS dbSNP
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.1159+1G>A rs1057520515
NM_000430.4(PAFAH1B1):c.1159+5del rs886041664
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) rs113994198
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) rs587784258
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter) rs886041341
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter) rs587784267
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs) rs797045861
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.62C>G (p.Ser21Ter) rs1567554574
NM_000430.4(PAFAH1B1):c.701_702GA[1] (p.Glu235fs) rs797045865
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000430.4(PAFAH1B1):c.826G>T (p.Glu276Ter) rs886039665
NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs) rs587784292
NM_000430.4(PAFAH1B1):c.957_961delinsATCTTAAT (p.Ile320_Lys321delinsSerTer) rs1064793990

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