List of variants in gene SMCHD1 reported as uncertain significance by GeneDx

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_015295.3(SMCHD1):c.3346A>G (p.Thr1116Ala)	rs377085725	0.00020
NM_015295.3(SMCHD1):c.3023C>T (p.Thr1008Met)	rs771100083	0.00004
NM_015295.3(SMCHD1):c.37T>G (p.Ser13Ala)	rs751463286	0.00003
NM_015295.3(SMCHD1):c.758T>C (p.Ile253Thr)	rs1057518622	0.00001
GRCh38/hg38 18p11.32(chr18:2770295-2816145)x3
NM_015295.3(SMCHD1):c.1126A>T (p.Ile376Phe)	rs185618962
NM_015295.3(SMCHD1):c.1291C>T (p.Pro431Ser)	rs2143155206
NM_015295.3(SMCHD1):c.1304A>G (p.Asp435Gly)
NM_015295.3(SMCHD1):c.1330T>G (p.Cys444Gly)
NM_015295.3(SMCHD1):c.1844T>G (p.Val615Gly)	rs2143233414
NM_015295.3(SMCHD1):c.2772_2773+2dup
NM_015295.3(SMCHD1):c.2823A>G (p.Ile941Met)	rs2075068734
NM_015295.3(SMCHD1):c.3058G>T (p.Asp1020Tyr)
NM_015295.3(SMCHD1):c.3583_3584delinsCA (p.Ser1195Gln)	rs2143547958
NM_015295.3(SMCHD1):c.3788C>T (p.Pro1263Leu)	rs2143570854
NM_015295.3(SMCHD1):c.4100A>G (p.Lys1367Arg)	rs2143618974
NM_015295.3(SMCHD1):c.5006G>T (p.Arg1669Leu)	rs368367743
NM_015295.3(SMCHD1):c.5284C>A (p.Arg1762Ser)	rs202006154
NM_015295.3(SMCHD1):c.810A>T (p.Glu270Asp)
NM_015295.3(SMCHD1):c.977G>A (p.Gly326Glu)	rs2143119041

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