ClinVar Miner

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

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001456.3(FLNA):c.7531C>T (p.Pro2511Ser) rs782383611
NM_001456.3(FLNA):c.7604G>A (p.Cys2535Tyr) rs201762017
NM_001456.3(FLNA):c.7631C>T (p.Pro2544Leu) rs1334045176
NM_001456.3(FLNA):c.7636C>A (p.Pro2546Thr) rs1060500720
NM_001456.3(FLNA):c.7714G>A (p.Val2572Ile) rs377518545
NM_001456.3(FLNA):c.7755_7756insTTCGGGG (p.Val2586Phefs) rs1557175195
NM_001456.3(FLNA):c.7778G>A (p.Cys2593Tyr) rs1060500721
NM_001456.3(FLNA):c.7793_7796delTGAA (p.Val2598Glyfs) rs1557175175
NM_001456.3(FLNA):c.7876G>C (p.Asp2626His) rs782341270
NM_001456.3(FLNA):c.7895G>T (p.Ser2632Ile) rs1557175110
NM_001456.3(FLNA):c.7903C>T (p.Arg2635Cys) rs200836471
NM_001456.3(FLNA):c.7908_7910delTGT (p.Val2638del) rs1060500715

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