ClinVar Miner

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

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 17p13.3(chr17:2575949-2579900)x1
NC_000017.10:g.(?_2541583)_(2573645_?)del
NC_000017.10:g.(?_2568646)_(2570512_?)del
NC_000017.10:g.(?_2568646)_(2579920_?)dup
NC_000017.10:g.(?_2568646)_(2585096_?)del
NC_000017.10:g.(?_2573437)_(2573645_?)del
NC_000017.10:g.(?_2573437)_(2576071_?)del
NM_000430.4(PAFAH1B1):c.1002+1G>C
NM_000430.4(PAFAH1B1):c.1009_1022del (p.His337fs) rs2151673809
NM_000430.4(PAFAH1B1):c.1011del (p.His337fs) rs2151673826
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs) rs797045855
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.1112del (p.Arg371fs)
NM_000430.4(PAFAH1B1):c.1145_1146del (p.Phe382fs)
NM_000430.4(PAFAH1B1):c.1159+1G>A rs1057520515
NM_000430.4(PAFAH1B1):c.1159+2T>A rs587784243
NM_000430.4(PAFAH1B1):c.1159+5del rs886041664
NM_000430.4(PAFAH1B1):c.117+1G>C rs2151659413
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs) rs587784253
NM_000430.4(PAFAH1B1):c.154del (p.Glu52fs)
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) rs113994198
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000430.4(PAFAH1B1):c.164G>A (p.Trp55Ter) rs757993270
NM_000430.4(PAFAH1B1):c.178A>T (p.Arg60Ter)
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.247_250dup (p.Pro84fs) rs2151660952
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) rs587784258
NM_000430.4(PAFAH1B1):c.277G>T (p.Glu93Ter)
NM_000430.4(PAFAH1B1):c.306T>G (p.Tyr102Ter)
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter) rs886041341
NM_000430.4(PAFAH1B1):c.427G>T (p.Glu143Ter) rs2151663964
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter) rs587784267
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs) rs797045861
NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg) rs121434482
NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs) rs587784268
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.569-6T>C
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.643del (p.Thr215fs) rs2151666409
NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs) rs587784275
NM_000430.4(PAFAH1B1):c.656G>A (p.Trp219Ter) rs2151666445
NM_000430.4(PAFAH1B1):c.699_700del (p.His233fs)
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) rs797045865
NM_000430.4(PAFAH1B1):c.708G>A (p.Trp236Ter) rs2151667800
NM_000430.4(PAFAH1B1):c.743_746dup (p.Ala250fs) rs2069227856
NM_000430.4(PAFAH1B1):c.794del (p.Thr265fs) rs2151667927
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.842del (p.Cys281fs)
NM_000430.4(PAFAH1B1):c.843C>A (p.Cys281Ter) rs2151667999
NM_000430.4(PAFAH1B1):c.852G>A (p.Trp284Ter) rs1567559851
NM_000430.4(PAFAH1B1):c.900+1G>A rs587784290
NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs) rs587784292
NM_000430.4(PAFAH1B1):c.954_955del (p.Lys318fs) rs2151669999
NM_000430.4(PAFAH1B1):c.957_961delinsATCTTAAT (p.Ile320_Lys321delinsSerTer) rs1064793990

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