ClinVar Miner

List of variants in gene PAFAH1B1 studied for not provided

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Total variants: 38
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HGVS dbSNP
GRCh37/hg19 17p13.3(chr17:2494580-2538513)x3
GRCh37/hg19 17p13.3(chr17:2498767-2529611)x3
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.112G>A (p.Asp38Asn) rs767670214
NM_000430.4(PAFAH1B1):c.1159+1G>A rs1057520515
NM_000430.4(PAFAH1B1):c.1159+5del rs886041664
NM_000430.4(PAFAH1B1):c.1160-77G>A
NM_000430.4(PAFAH1B1):c.117+5G>C rs1555526248
NM_000430.4(PAFAH1B1):c.117_117+2del rs1064796229
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) rs113994198
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) rs587784258
NM_000430.4(PAFAH1B1):c.33-1G>C rs1057521243
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter) rs886041341
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904
NM_000430.4(PAFAH1B1):c.38G>A (p.Arg13Gln) rs374766360
NM_000430.4(PAFAH1B1):c.400-284A>G
NM_000430.4(PAFAH1B1):c.421G>A (p.Asp141Asn) rs1555526698
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter) rs587784267
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs) rs797045861
NM_000430.4(PAFAH1B1):c.568+233C>T
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.569-330G>A
NM_000430.4(PAFAH1B1):c.569-4T>G rs765106555
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063
NM_000430.4(PAFAH1B1):c.62C>G (p.Ser21Ter) rs1567554574
NM_000430.4(PAFAH1B1):c.672-177A>T
NM_000430.4(PAFAH1B1):c.672-263C>T
NM_000430.4(PAFAH1B1):c.684G>T (p.Lys228Asn) rs1567559660
NM_000430.4(PAFAH1B1):c.701_702GA[1] (p.Glu235fs) rs797045865
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
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.901-346T>C
NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs) rs587784292
NM_000430.4(PAFAH1B1):c.957_961delinsATCTTAAT (p.Ile320_Lys321delinsSerTer) rs1064793990

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