ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_001110556.2(FLNA):c.7756+19C>T rs781867343 0.00009
NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile) rs187774579 0.00005
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His) rs782341270 0.00005
NM_001110556.2(FLNA):c.7725G>A (p.Lys2575=) rs782375435 0.00004
NM_001110556.2(FLNA):c.7776G>C (p.Val2592=) rs369380495 0.00004
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771 0.00003
NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=) rs367666924 0.00003
NM_001110556.2(FLNA):c.7848G>C (p.Val2616=) rs782691688 0.00003
NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) rs782774918 0.00003
NM_001110556.2(FLNA):c.7902C>T (p.Asp2634=) rs372375216 0.00003
NM_001110556.2(FLNA):c.7563C>T (p.Leu2521=) rs782335342 0.00002
NM_001110556.2(FLNA):c.7659G>C (p.Gly2553=) rs909656307 0.00002
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile) rs377518545 0.00002
NM_001110556.2(FLNA):c.7756+12G>A rs782686474 0.00002
NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) rs782372740 0.00002
NM_001110556.2(FLNA):c.7569C>T (p.Ser2523=) rs1557175313 0.00001
NM_001110556.2(FLNA):c.7577G>A (p.Ser2526Asn) rs1485769153 0.00001
NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys) rs1557175308 0.00001
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu) rs1334045176 0.00001
NM_001110556.2(FLNA):c.7668C>T (p.Asp2556=) rs782784577 0.00001
NM_001110556.2(FLNA):c.7677G>A (p.Lys2559=) rs2070815 0.00001
NM_001110556.2(FLNA):c.7824C>T (p.His2608=) rs782530835 0.00001
NM_001110556.2(FLNA):c.7835G>A (p.Arg2612Gln) rs200883457 0.00001
NM_001110556.2(FLNA):c.7887G>A (p.Val2629=) rs376783033 0.00001
NM_001110556.2(FLNA):c.7929C>T (p.Arg2643=) rs782493799 0.00001
NM_001110556.2(FLNA):c.7553-7C>T
NM_001110556.2(FLNA):c.7554C>G (p.Gly2518=)
NM_001110556.2(FLNA):c.7554C>T (p.Gly2518=)
NM_001110556.2(FLNA):c.7584C>T (p.His2528=) rs201883808
NM_001110556.2(FLNA):c.7599G>A (p.Val2533=)
NM_001110556.2(FLNA):c.7605A>G (p.Val2535=)
NM_001110556.2(FLNA):c.7622C>T (p.Ala2541Val)
NM_001110556.2(FLNA):c.7644G>A (p.Gly2548=) rs2067601627
NM_001110556.2(FLNA):c.7653T>G (p.Gly2551=)
NM_001110556.2(FLNA):c.7665T>C (p.Ala2555=) rs2148100398
NM_001110556.2(FLNA):c.7671C>T (p.Ala2557=) rs398123624
NM_001110556.2(FLNA):c.7757-15C>T
NM_001110556.2(FLNA):c.7757-16A>T rs1057522350
NM_001110556.2(FLNA):c.7757-20G>C
NM_001110556.2(FLNA):c.7757-5C>G
NM_001110556.2(FLNA):c.7757-5del rs2148099864
NM_001110556.2(FLNA):c.7761C>T (p.Asn2587=)
NM_001110556.2(FLNA):c.7779G>T (p.Gly2593=)
NM_001110556.2(FLNA):c.7837C>G (p.Leu2613Val)
NM_001110556.2(FLNA):c.7848G>A (p.Val2616=)
NM_001110556.2(FLNA):c.7857G>A (p.Leu2619=) rs2148099708
NM_001110556.2(FLNA):c.7860C>G (p.Leu2620=)
NM_001110556.2(FLNA):c.7869G>A (p.Lys2623=)
NM_001110556.2(FLNA):c.7899G>A (p.Gly2633=)
NM_001110556.2(FLNA):c.7900G>T (p.Asp2634Tyr)
NM_001110556.2(FLNA):c.7908C>T (p.His2636=)

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