List of variants in gene SMC3 reported as pathogenic for bone development disease

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_005445.4(SMC3):c.1071_1074del (p.Glu358fs)	rs1590556722
NM_005445.4(SMC3):c.1138_1152del (p.Gly380_Gln384del)	rs1861074646
NM_005445.4(SMC3):c.139T>C (p.Phe47Leu)	rs863225258
NM_005445.4(SMC3):c.1461AGA[1] (p.Glu488del)	rs863223279
NM_005445.4(SMC3):c.1462G>A (p.Glu488Lys)	rs863225260
NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)	rs886041239
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)	rs587784425
NM_005445.4(SMC3):c.1997G>C (p.Gly666Ala)	rs863225261
NM_005445.4(SMC3):c.2044G>A (p.Val682Ile)	rs2134745322
NM_005445.4(SMC3):c.2536-5_2541del	rs727503775
NM_005445.4(SMC3):c.2750A>C (p.His917Pro)	rs797044861
NM_005445.4(SMC3):c.703_705del (p.Thr235del)	rs863225259
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)	rs587784429

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