ClinVar Miner

List of variants in gene PAFAH1B1 reported as likely pathogenic

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln) rs794729199 0.00001
NC_000017.10:g.(?_2541583)_(2541634_?)dup
NC_000017.10:g.(?_2569290)_(2576071_?)dup
NC_000017.10:g.(?_2573437)_(2585096_?)del
NC_000017.11:g.(?_2638238)_(2638345_?)del
NC_000017.11:g.(?_2680139)_(2681852_?)del
NM_000430.3:c.(32+1_33-1)_(399+1_400-1)del
NM_000430.3:c.(568+1_569-1)_(671+1_672-1)del
NM_000430.3:c.(?_-30)_(*220_?)del
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp) rs587784236
NM_000430.4(PAFAH1B1):c.1044dup (p.Gly349fs) rs2069358559
NM_000430.4(PAFAH1B1):c.1072G>A (p.Asp358Asn) rs2151673924
NM_000430.4(PAFAH1B1):c.1083_1084dup (p.Leu362fs) rs2151673946
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) rs587784241
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg) rs2069361452
NM_000430.4(PAFAH1B1):c.117+5G>C rs1555526248
NM_000430.4(PAFAH1B1):c.117_117+2del rs1064796229
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile) rs1131691295
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.154dup (p.Glu52fs) rs2069103320
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg) rs587784254
NM_000430.4(PAFAH1B1):c.193-1G>A
NM_000430.4(PAFAH1B1):c.19C>T (p.Gln7Ter) rs2068649745
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.282G>A (p.Trp94Ter) rs2151660977
NM_000430.4(PAFAH1B1):c.287C>G (p.Pro96Arg) rs2151660984
NM_000430.4(PAFAH1B1):c.33-1G>C rs1057521243
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.521_523dup (p.Ile174_Lys175insIle) rs2151664099
NM_000430.4(PAFAH1B1):c.568+2T>C rs2151664151
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.569-3del rs797045863
NM_000430.4(PAFAH1B1):c.569G>T (p.Gly190Val)
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.680_681del (p.Val227fs) rs2069226261
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.721del (p.Arg241fs) rs2069227227
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro) rs121434488
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.901-1G>A
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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