ClinVar Miner

List of variants reported as likely pathogenic by Claritas Genomics

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Total variants: 21
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HGVS dbSNP
NM_000124.3(ERCC6):c.1518delG (p.Lys506Asnfs) rs786205168
NM_000124.3(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.3(ERCC6):c.2096dupC (p.Leu700Valfs) rs774791374
NM_000124.3(ERCC6):c.3612_3613insT (p.Lys1205Terfs) rs786205173
NM_000124.3(ERCC6):c.3952_3953delAG (p.Arg1318Glyfs) rs765825423
NM_001110556.1(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.1(FLNA):c.1061_1065delATAAG (p.His354Argfs) rs786205180
NM_001110556.1(FLNA):c.137delA (p.Gln46Argfs) rs786205181
NM_001110556.1(FLNA):c.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.1(FLNA):c.3529delG (p.Glu1177Argfs) rs786205188
NM_001110556.1(FLNA):c.3875_3888dup (p.Val1297Thrfs) rs786205189
NM_001110556.1(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.1(FLNA):c.4006delG (p.Asp1336Thrfs) rs786205191
NM_001110556.1(FLNA):c.4617_4618delGC (p.Leu1540Alafs) rs786205194
NM_001110556.1(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.1(FLNA):c.4943delC (p.Thr1648Lysfs) rs786205198
NM_001110556.1(FLNA):c.5021_5022delTG (p.Val1674Glyfs) rs786205199
NM_001110556.1(FLNA):c.6580G>T (p.Glu2194Ter) rs786205202
NM_001110556.1(FLNA):c.732dupC (p.Glu245Argfs) rs786205203
NM_001110556.1(FLNA):c.987+1G>A rs786205204
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451

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