ClinVar Miner

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

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000430.4(PAFAH1B1):c.901-346T>C rs4790354 0.99257
NM_000430.4(PAFAH1B1):c.568+233C>T rs3213697 0.89115
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696 0.89105
NM_000430.4(PAFAH1B1):c.400-284A>G rs11078302 0.86470
NM_000430.4(PAFAH1B1):c.672-263C>T rs2317297 0.82967
NM_000430.4(PAFAH1B1):c.*17C>T rs6628 0.20094
NM_000430.4(PAFAH1B1):c.672-177A>T rs7223411 0.15490
NM_000430.4(PAFAH1B1):c.1160-77G>A rs62068249 0.13980
NM_000430.4(PAFAH1B1):c.901-209T>G rs138515134 0.03469
NM_000430.4(PAFAH1B1):c.568+281T>G rs75027556 0.02664
NM_000430.4(PAFAH1B1):c.192+43T>C rs75468446 0.02663
NM_000430.4(PAFAH1B1):c.901-79C>G rs115257538 0.02489
NM_000430.4(PAFAH1B1):c.-191+1560A>G rs76026762 0.02484
NM_000430.4(PAFAH1B1):c.672-10A>C rs77153143 0.01770
NC_000017.11:g.2593443C>T rs75906129 0.01598
NM_000430.4(PAFAH1B1):c.33-181_33-180del rs112251814 0.01572
NM_000430.4(PAFAH1B1):c.192+174T>C rs111612096 0.01567
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=) rs2228614 0.01444
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011 0.00638
NM_000430.4(PAFAH1B1):c.118-14T>C rs147692085 0.00468
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=) rs1803915 0.00347
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620 0.00115
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=) rs147983048 0.00015
NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser) rs377583144 0.00014
NM_000430.4(PAFAH1B1):c.1159+8C>T rs199672477 0.00008
NM_000430.4(PAFAH1B1):c.483C>T (p.Ser161=) rs532943486 0.00002
NM_000430.4(PAFAH1B1):c.567C>T (p.His189=) rs141528563 0.00002
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063 0.00001
NM_000430.4(PAFAH1B1):c.787G>A (p.Val263Ile) rs769869336 0.00001
GRCh37/hg19 17p13.3(chr17:2498767-2529611)x3
NM_000430.4(PAFAH1B1):c.*3634C>T
NM_000430.4(PAFAH1B1):c.-191+1431_-191+1432insTTCTT rs1188566045
NM_000430.4(PAFAH1B1):c.-191+19575G>A
NM_000430.4(PAFAH1B1):c.-191+19673_-191+19676dup
NM_000430.4(PAFAH1B1):c.-191+19837G>T
NM_000430.4(PAFAH1B1):c.-191+3737TC[2] rs10606544
NM_000430.4(PAFAH1B1):c.-191+3776GT[10] rs142241253
NM_000430.4(PAFAH1B1):c.1003-10dup
NM_000430.4(PAFAH1B1):c.1003-4del
NM_000430.4(PAFAH1B1):c.1160-133G>T rs115787518
NM_000430.4(PAFAH1B1):c.338G>A (p.Arg113Gln)
NM_000430.4(PAFAH1B1):c.343A>G (p.Ile115Val) rs1389070949
NM_000430.4(PAFAH1B1):c.399+5T>C rs749488964
NM_000430.4(PAFAH1B1):c.568+8del rs753373988
NM_000430.4(PAFAH1B1):c.671+320dup rs200096941
NM_000430.4(PAFAH1B1):c.671+9G>C

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