List of variants in gene SMCHD1 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs)	rs1555635144
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter)	rs377471712
NM_015295.3(SMCHD1):c.120del (p.Asp42fs)	rs1555622310
NM_015295.3(SMCHD1):c.1672_1673del (p.Glu558fs)	rs1568183325
NM_015295.3(SMCHD1):c.1843-1G>A	rs886043146
NM_015295.3(SMCHD1):c.1872_1873del (p.Phe624fs)	rs1568188407
NM_015295.3(SMCHD1):c.3197del (p.Met1066fs)	rs1568261067
NM_015295.3(SMCHD1):c.3238_3239del (p.Glu1080fs)	rs886043182
NM_015295.3(SMCHD1):c.3276_3276+4del	rs1555642277
NM_015295.3(SMCHD1):c.3801+1G>A	rs886042417
NM_015295.3(SMCHD1):c.424+1G>A	rs1555625396
NM_015295.3(SMCHD1):c.4733_4736dup (p.Glu1579fs)	rs1555651730
NM_015295.3(SMCHD1):c.4799dup (p.Leu1600fs)	rs867598503
NM_015295.3(SMCHD1):c.4898T>G (p.Leu1633Ter)	rs886044419
NM_015295.3(SMCHD1):c.5020del (p.Ile1674fs)	rs886044129
NM_015295.3(SMCHD1):c.5547+1G>C	rs1555654127

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