List of variants in gene PAFAH1B1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 17p13.3(chr17:2496180-2498568)x1
GRCh37/hg19 17p13.3(chr17:2497629-2585485)x1
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.117+1G>C	rs2151659413
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.632C>G (p.Ser211Ter)	rs587784273
NM_000430.4(PAFAH1B1):c.703_704del (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.957_961delinsATCTTAAT (p.Ile320_Lys321delinsSerTer)	rs1064793990

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