ClinVar Miner

List of variants in gene PAFAH1B1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 17
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HGVS dbSNP
GRCh37/hg19 17p13.3(chr17:2496180-2498568)x1
GRCh37/hg19 17p13.3(chr17:2497629-2585485)x1
NM_000430.3(PAFAH1B1):c.1050delG (p.Lys351Serfs) rs113994200
NM_000430.3(PAFAH1B1):c.1159+1G>A rs1057520515
NM_000430.3(PAFAH1B1):c.1159+5delG rs886041664
NM_000430.3(PAFAH1B1):c.162delA (p.Lys54Asnfs) rs113994198
NM_000430.3(PAFAH1B1):c.162dupA (p.Trp55Metfs) rs113994198
NM_000430.3(PAFAH1B1):c.265C>T (p.Arg89Ter) rs587784258
NM_000430.3(PAFAH1B1):c.337C>T (p.Arg113Ter) rs886041341
NM_000430.3(PAFAH1B1):c.430C>T (p.Arg144Ter) rs587784267
NM_000430.3(PAFAH1B1):c.441dupA (p.Gly148Argfs) rs797045861
NM_000430.3(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.3(PAFAH1B1):c.703_704delGA (p.Glu235Metfs) rs797045865
NM_000430.3(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000430.3(PAFAH1B1):c.826G>T (p.Glu276Ter) rs886039665
NM_000430.3(PAFAH1B1):c.957_961delTATTAinsATCTTAAT (p.Ile320_Arg410delinsSer) rs1064793990
NM_000430.4(PAFAH1B1):c.62C>G (p.Ser21Ter)

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