ClinVar Miner

List of variants in gene SMCHD1 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 16
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NM_015295.2(SMCHD1):c.1186C>T (p.Gln396Ter)
NM_015295.2(SMCHD1):c.120del (p.Asp42fs) rs1555622310
NM_015295.2(SMCHD1):c.1670_1671GA[1] (p.Glu558fs) rs1568183325
NM_015295.2(SMCHD1):c.1843-1G>A rs886043146
NM_015295.2(SMCHD1):c.1872_1873del (p.Phe624fs) rs1568188407
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs) rs1555635144
NM_015295.2(SMCHD1):c.3197del (p.Met1066fs) rs1568261067
NM_015295.2(SMCHD1):c.3236_3237GA[1] (p.Glu1080fs) rs886043182
NM_015295.2(SMCHD1):c.3276_3276+4delAGTAA rs1555642277
NM_015295.2(SMCHD1):c.3801+1G>A rs886042417
NM_015295.2(SMCHD1):c.424+1G>A rs1555625396
NM_015295.2(SMCHD1):c.4733_4736dup (p.Glu1579fs) rs1555651730
NM_015295.2(SMCHD1):c.4799dup (p.Leu1600fs) rs867598503
NM_015295.2(SMCHD1):c.4898T>G (p.Leu1633Ter) rs886044419
NM_015295.2(SMCHD1):c.5020del (p.Ile1674fs) rs886044129
NM_015295.2(SMCHD1):c.5547+1G>C rs1555654127

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