ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000430.4(PAFAH1B1):c.*1042_*1043del rs55976318 0.00373
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=) rs1803915 0.00347
NM_000430.4(PAFAH1B1):c.-191+19673_-191+19676dup rs553909283 0.00208
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00111
NM_000430.4(PAFAH1B1):c.*3634C>T rs976826827 0.00069
NM_000430.4(PAFAH1B1):c.-191+19575G>A rs554857059 0.00057
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00055
NM_000430.4(PAFAH1B1):c.-191+19512G>T rs372110012 0.00039
NM_000430.4(PAFAH1B1):c.-191+19285C>G rs577447220 0.00013
NM_000430.4(PAFAH1B1):c.33-2577G>C rs147623319 0.00005
NM_000430.4(PAFAH1B1):c.-191+19837G>T rs1241384974 0.00004
NM_000430.4(PAFAH1B1):c.1080G>A (p.Lys360=) rs1195364379 0.00002
NM_000430.4(PAFAH1B1):c.1151C>G (p.Thr384Ser) rs763573429 0.00001
GRCh37/hg19 17p13.3(chr17:2575949-2579900)x1
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.33-2550C>T
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.661G>A (p.Val221Met) rs1262666760
NM_000430.4(PAFAH1B1):c.684G>T (p.Lys228Asn) rs1567559660
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000430.4(PAFAH1B1):c.900+1G>A rs587784290
NM_000430.4(PAFAH1B1):c.941G>T (p.Gly314Val) rs1597577296
NM_000430.4(PAFAH1B1):c.954_955del (p.Lys318fs) rs2151669999

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