ClinVar Miner

List of variants in gene combination FLNA, LOC107988032 reported as uncertain significance for obsolete Ehlers-Danlos syndrome with periventricular heterotopia

Included ClinVar conditions (8):
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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) rs369791082 0.00003
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) rs377518545 0.00002
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611 0.00001
NM_001110556.2(FLNA):c.7634C>T (p.Pro2545Leu) rs1377674951 0.00001
NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg) rs1057520770 0.00001
NM_001110556.2(FLNA):c.7798C>A (p.Pro2600Thr) rs377322094 0.00001
NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly) rs929704371 0.00001
NM_001110556.2(FLNA):c.7556C>G (p.Pro2519Arg) rs2067602794
NM_001110556.2(FLNA):c.7564_7566del (p.Val2522del)
NM_001110556.2(FLNA):c.7579C>A (p.Leu2527Ile)
NM_001110556.2(FLNA):c.7607A>T (p.Asp2536Val)
NM_001110556.2(FLNA):c.7612C>G (p.Leu2538Val)
NM_001110556.2(FLNA):c.7616C>T (p.Thr2539Ile)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7628G>T (p.Cys2543Phe)
NM_001110556.2(FLNA):c.7630G>T (p.Ala2544Ser) rs782714612
NM_001110556.2(FLNA):c.7631C>A (p.Ala2544Asp)
NM_001110556.2(FLNA):c.7636C>G (p.Gln2546Glu)
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser) rs1557175287
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) rs1060500720
NM_001110556.2(FLNA):c.7664C>T (p.Ala2555Val)
NM_001110556.2(FLNA):c.7673_7674delinsAG (p.Ser2558Lys)
NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala)
NM_001110556.2(FLNA):c.7739T>C (p.Val2580Ala)
NM_001110556.2(FLNA):c.7756+2T>A
NM_001110556.2(FLNA):c.7756+6C>A
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro) rs1603358284
NM_001110556.2(FLNA):c.7789C>T (p.Pro2597Ser)
NM_001110556.2(FLNA):c.7793G>A (p.Arg2598Lys)
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) rs1060500721
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) rs1557175175
NM_001110556.2(FLNA):c.7847T>C (p.Val2616Ala) rs782411364
NM_001110556.2(FLNA):c.7871G>C (p.Gly2624Ala)
NM_001110556.2(FLNA):c.7895G>T (p.Trp2632Leu)
NM_001110556.2(FLNA):c.7896G>C (p.Trp2632Cys) rs398122812
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) rs863223635
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) rs1557175110
NM_001110556.2(FLNA):c.7927C>G (p.Arg2643Gly) rs200836471
NM_001110556.2(FLNA):c.7928G>C (p.Arg2643Pro) rs782641074
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) rs1060500715

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