List of variants in gene SMC3 reported as uncertain significance for Inborn genetic diseases

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser)	rs777828072	0.00001
NM_005445.4(SMC3):c.1187A>G (p.Lys396Arg)
NM_005445.4(SMC3):c.1484A>T (p.Gln495Leu)
NM_005445.4(SMC3):c.1557C>A (p.Phe519Leu)	rs1246875158
NM_005445.4(SMC3):c.2095A>C (p.Asn699His)
NM_005445.4(SMC3):c.2126A>C (p.Asn709Thr)
NM_005445.4(SMC3):c.2217G>A (p.Met739Ile)
NM_005445.4(SMC3):c.2222T>C (p.Met741Thr)
NM_005445.4(SMC3):c.2303A>G (p.His768Arg)
NM_005445.4(SMC3):c.2340A>C (p.Glu780Asp)	rs1861357947
NM_005445.4(SMC3):c.2567G>A (p.Gly856Asp)
NM_005445.4(SMC3):c.3114G>T (p.Lys1038Asn)
NM_005445.4(SMC3):c.3127G>A (p.Val1043Ile)
NM_005445.4(SMC3):c.3241T>C (p.Ser1081Pro)
NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala)
NM_005445.4(SMC3):c.367A>T (p.Asn123Tyr)	rs1554882313

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