List of variants in gene PAFAH1B1 reported as likely pathogenic for Lissencephaly due to LIS1 mutation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln)	rs794729199	0.00001
NC_000017.11:g.(?_2638238)_(2638345_?)del
NC_000017.11:g.(?_2680139)_(2681852_?)del
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp)	rs587784236
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg)	rs2069361452
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp)	rs587784247
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys)	rs587784250
NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs)
NM_000430.4(PAFAH1B1):c.400-1G>A	rs2151663926
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)	rs121434487
NM_000430.4(PAFAH1B1):c.485G>A (p.Gly162Asp)
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr)	rs200390886
NM_000430.4(PAFAH1B1):c.568+2T>C	rs2151664151
NM_000430.4(PAFAH1B1):c.569-3del	rs797045863
NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met)	rs1262666760
NM_000430.4(PAFAH1B1):c.671+4A>G	rs587784279
NM_000430.4(PAFAH1B1):c.671+5G>A	rs587784280
NM_000430.4(PAFAH1B1):c.681dup (p.Lys228fs)	rs2151667785
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)	rs797045865
NM_000430.4(PAFAH1B1):c.707G>A (p.Trp236Ter)
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg)	rs587784287
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly)	rs1555527149
NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=)	rs587784291
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp)	rs587784291
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe)	rs587784293
NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg)	rs587784294
NM_000430.4(PAFAH1B1):c.967T>A (p.Trp323Arg)	rs2069271269

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