List of variants in gene PAFAH1B1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 7

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 17p13.3(chr17:2575949-2579900)x1
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs)	rs113994200
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.817C>T (p.Arg273Ter)	rs121434483
NM_000430.4(PAFAH1B1):c.900+1G>A	rs587784290
NM_000430.4(PAFAH1B1):c.954_955del (p.Lys318fs)	rs2151669999

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