ClinVar Miner

List of variants in gene FA2H reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_024306.5(FA2H):c.786+181G>C rs75949926 0.00946
NM_024306.5(FA2H):c.786+281C>G rs78705487 0.00598
NM_024306.5(FA2H):c.614-57G>A rs114682163 0.00594
NM_024306.5(FA2H):c.271-285G>A rs143108609 0.00551
NM_024306.5(FA2H):c.*34G>A rs75856125 0.00543
NM_024306.5(FA2H):c.363+149C>T rs141119883 0.00490
NM_024306.5(FA2H):c.614-64G>A rs76575876 0.00385
NM_024306.5(FA2H):c.364-280G>A rs111733379 0.00362
NM_024306.5(FA2H):c.847G>A (p.Val283Ile) rs138244546 0.00220
NM_024306.5(FA2H):c.1113G>C (p.Thr371=) rs140017632 0.00191
NM_024306.5(FA2H):c.570C>A (p.Thr190=) rs138892784 0.00121
NM_024306.5(FA2H):c.537G>A (p.Leu179=) rs75711361 0.00103
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp) rs141276237 0.00053
NM_024306.5(FA2H):c.771C>T (p.His257=) rs371293493 0.00015
NM_024306.5(FA2H):c.786+238G>A rs116372434
NM_024306.5(FA2H):c.786+65C>G rs111306468
NM_024306.5(FA2H):c.787-233G>A rs113713735

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