ClinVar Miner

List of variants in gene PAFAH1B1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000430.4(PAFAH1B1):c.569-330G>A rs16952298 0.02854
NM_000430.4(PAFAH1B1):c.1003-180G>A rs73304261 0.01065
NM_000430.4(PAFAH1B1):c.192+49C>T rs140548168 0.00948
NM_000430.4(PAFAH1B1):c.33-74T>C rs116129145 0.00677
NM_000430.4(PAFAH1B1):c.569-234G>T rs77786909 0.00647
NM_000430.4(PAFAH1B1):c.901-256G>A rs187519888 0.00645
NM_000430.4(PAFAH1B1):c.1003-234T>C rs76146954 0.00562
NM_000430.4(PAFAH1B1):c.-191+1593G>T rs76667110 0.00494
NM_000430.4(PAFAH1B1):c.118-14T>C rs147692085 0.00468
NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val) rs144659773 0.00013
NM_000430.4(PAFAH1B1):c.690C>T (p.Phe230=) rs1351403324 0.00002
NM_000430.4(PAFAH1B1):c.400-13G>A rs1346378389 0.00001
NC_000017.11:g.2593327C>T rs62068214
NM_000430.4(PAFAH1B1):c.-190-251A>G rs16952273
NM_000430.4(PAFAH1B1):c.-191+1473_-191+1474del rs543168607
NM_000430.4(PAFAH1B1):c.-191+3794_-191+3795del rs746390038
NM_000430.4(PAFAH1B1):c.-191+4048A>G rs144414689
NM_000430.4(PAFAH1B1):c.1002+100G>A rs116235430
NM_000430.4(PAFAH1B1):c.1160-189G>T rs145990395
NM_000430.4(PAFAH1B1):c.399+134_399+135insA rs1314692900
NM_000430.4(PAFAH1B1):c.399+146dup rs934220950
NM_000430.4(PAFAH1B1):c.671+307G>A rs144174526

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