List of variants in gene SMCHD1 reported as uncertain significance for Arrhinia with choanal atresia and microphthalmia syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser)	rs767898877	0.00001
NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His)	rs1405560459	0.00001
NM_015295.3(SMCHD1):c.1504C>G (p.Pro502Ala)	rs1355109257
NM_015295.3(SMCHD1):c.2972G>A (p.Ser991Asn)	rs2075090484
NM_015295.3(SMCHD1):c.4823T>G (p.Ile1608Ser)	rs2075942900
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)	rs1135402740
NM_015295.3(SMCHD1):c.5572A>G (p.Thr1858Ala)

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