ClinVar Miner

List of variants reported as likely pathogenic for obsolete Ehlers-Danlos syndrome with periventricular heterotopia

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) rs786205180
NM_001110556.2(FLNA):c.1065+1G>T rs2067762985
NM_001110556.2(FLNA):c.1066-1G>A rs2148118126
NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter) rs782121971
NM_001110556.2(FLNA):c.1130C>G (p.Ser377Ter)
NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg) rs398123613
NM_001110556.2(FLNA):c.137del (p.Gln46fs) rs786205181
NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.2(FLNA):c.2137-1G>A rs2148115834
NM_001110556.2(FLNA):c.238C>G (p.Leu80Val) rs2148121932
NM_001110556.2(FLNA):c.2401_2402insCT (p.Gln801fs) rs2148114607
NM_001110556.2(FLNA):c.2405-1G>C
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
NM_001110556.2(FLNA):c.2827-2A>C rs2067713488
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) rs786205188
NM_001110556.2(FLNA):c.3544C>T (p.Gln1182Ter)
NM_001110556.2(FLNA):c.374-2A>G
NM_001110556.2(FLNA):c.3805+1G>A
NM_001110556.2(FLNA):c.3805+2T>C
NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) rs786205189
NM_001110556.2(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) rs786205191
NM_001110556.2(FLNA):c.4142+1G>A rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe) rs2148119483
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.4598+1G>A
NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) rs786205194
NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) rs786205198
NM_001110556.2(FLNA):c.5021_5022del (p.Val1674fs) rs786205199
NM_001110556.2(FLNA):c.5417-2A>G
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.622+1G>A rs2148119316
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs) rs2148104376
NM_001110556.2(FLNA):c.6503-2A>C rs112363874
NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter) rs786205202
NM_001110556.2(FLNA):c.6772G>T (p.Glu2258Ter) rs1569551449
NM_001110556.2(FLNA):c.7023+1G>T rs2148102980
NM_001110556.2(FLNA):c.732dup (p.Glu245fs) rs786205203
NM_001110556.2(FLNA):c.7333+1G>A rs1557175424
NM_001110556.2(FLNA):c.7333+1G>C rs1557175424
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) rs797044753
NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del) rs2067597172
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) rs863223635
NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)
NM_001110556.2(FLNA):c.868+1G>A
NM_001110556.2(FLNA):c.987+1G>A rs786205204

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