ClinVar Miner

List of variants in gene combination FLNA, LOC107988032 reported as benign for X-linked disease

Included ClinVar conditions (274):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn) rs782555930 0.00014
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807 0.00009
NM_001110556.2(FLNA):c.7756+20G>A rs782395246 0.00009
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471 0.00006
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) rs781864075 0.00003
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) rs782244918 0.00002
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His) rs781959191 0.00002
NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=) rs781905890 0.00002
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile) rs782291033 0.00002
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn) rs782593788 0.00002
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg) rs782302420 0.00002
NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His) rs782641074 0.00002
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala) rs886039104 0.00001
NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg) rs1557175285 0.00001
NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=) rs782709737 0.00001
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala)
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=) rs782308141
NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala)
NM_001110556.2(FLNA):c.7756+11= rs7063300
NM_001110556.2(FLNA):c.7756+20G>T rs782395246
NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)

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