List of variants in gene SMCHD1 reported as likely pathogenic

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: 30

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HGVS	dbSNP	gnomAD frequency
NC_000018.9:g.(?_2718136)_(2743946_?)dup
NC_000018.9:g.(?_2738375)_(2802550_?)del
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del)	rs886044914
NM_015295.3(SMCHD1):c.1647+1G>T
NM_015295.3(SMCHD1):c.1717_1720del (p.Lys572_Gln573insTer)
NM_015295.3(SMCHD1):c.1918G>T (p.Glu640Ter)
NM_015295.3(SMCHD1):c.2008G>T (p.Asp670Tyr)	rs2143241656
NM_015295.3(SMCHD1):c.2176_2179del (p.Lys726fs)
NM_015295.3(SMCHD1):c.261del (p.Phe87fs)	rs2143801614
NM_015295.3(SMCHD1):c.262+1G>A
NM_015295.3(SMCHD1):c.262+1G>T
NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro)	rs2143530610
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)	rs1568280995
NM_015295.3(SMCHD1):c.35_45dup (p.Thr16fs)
NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)	rs1204021010
NM_015295.3(SMCHD1):c.3927+2dup	rs2075481193
NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)
NM_015295.3(SMCHD1):c.4267C>T (p.Arg1423Ter)
NM_015295.3(SMCHD1):c.4719+1G>T	rs886044369
NM_015295.3(SMCHD1):c.4879dup (p.Thr1627fs)	rs886044257
NM_015295.3(SMCHD1):c.4966+5G>A	rs1598426626
NM_015295.3(SMCHD1):c.5052+2T>C
NM_015295.3(SMCHD1):c.5145_5146del (p.Tyr1715_Thr1716insTer)
NM_015295.3(SMCHD1):c.5286dup (p.Ile1763fs)
NM_015295.3(SMCHD1):c.5568T>A (p.Cys1856Ter)	rs1568383892
NM_015295.3(SMCHD1):c.5720-2A>C
NM_015295.3(SMCHD1):c.5782dup (p.Ser1928fs)	rs1555658855
NM_015295.3(SMCHD1):c.638+1G>A
NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys)	rs867104086
NM_015295.3(SMCHD1):c.820AAG[1] (p.Lys275del)	rs746679988

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