ClinVar Miner

List of variants in gene SMC3 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_005445.4(SMC3):c.2934G>A (p.Lys978=) rs147463420 0.00135
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=) rs142395521 0.00064
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00032
NM_005445.4(SMC3):c.2796A>G (p.Leu932=) rs199966664 0.00019
NM_005445.4(SMC3):c.837A>G (p.Thr279=) rs151335692 0.00018
NM_005445.4(SMC3):c.1416G>A (p.Leu472=) rs753327472 0.00011
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00009
NM_005445.4(SMC3):c.810C>T (p.Ile270=) rs148729748 0.00009
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=) rs112525060 0.00007
NM_005445.4(SMC3):c.2589A>G (p.Thr863=) rs768482776 0.00003
NM_005445.4(SMC3):c.1241C>T (p.Ala414Val) rs555886077 0.00002
NM_005445.4(SMC3):c.2343G>A (p.Leu781=) rs1189519944 0.00002
NM_005445.4(SMC3):c.369C>T (p.Asn123=) rs779773957 0.00002
NM_005445.4(SMC3):c.3228G>A (p.Glu1076=) rs768560730 0.00001
NM_005445.4(SMC3):c.3339A>G (p.Gln1113=) rs189703529 0.00001
NM_005445.4(SMC3):c.621G>A (p.Lys207=) rs1412736656 0.00001
NM_005445.4(SMC3):c.1070A>G (p.Lys357Arg)
NM_005445.4(SMC3):c.1410-6_1410-3del rs546049291
NM_005445.4(SMC3):c.255A>T (p.Ser85=) rs146433240
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys)
NM_005445.4(SMC3):c.2892+3T>A
NM_005445.4(SMC3):c.3081A>G (p.Glu1027=)
NM_005445.4(SMC3):c.3168G>A (p.Val1056=)
NM_005445.4(SMC3):c.339G>A (p.Lys113=)
NM_005445.4(SMC3):c.402T>C (p.Asn134=)
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.69C>T (p.Phe23=)
NM_005445.4(SMC3):c.769A>C (p.Arg257=)
NM_005445.4(SMC3):c.997C>T (p.Leu333=) rs1564790436

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.