ClinVar Miner

List of variants in gene SMC3 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=) rs2419565 0.98861
NM_005445.4(SMC3):c.970-8G>A rs11195199 0.11151
NM_005445.4(SMC3):c.351-9T>C rs78663177 0.06159
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=) rs75323904 0.06157
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
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.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00009
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=) rs112525060 0.00007
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_005445.4(SMC3):c.507C>T (p.Asp169=) rs370909218 0.00004
NM_005445.4(SMC3):c.2299T>C (p.Leu767=) rs139763232 0.00001
NM_005445.4(SMC3):c.621G>A (p.Lys207=) rs1412736656 0.00001
NM_005445.4(SMC3):c.1433_1435dup (p.Ala478dup) rs797045995
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp) rs776056911
NM_005445.4(SMC3):c.2264C>T (p.Pro755Leu) rs76568464
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln) rs587784427
NM_005445.4(SMC3):c.2427+13C>T rs190798929
NM_005445.4(SMC3):c.257A>C (p.Asp86Ala) rs1554882236
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg) rs112281749
NM_005445.4(SMC3):c.274G>T (p.Asp92Tyr) rs1554882266
NM_005445.4(SMC3):c.2964T>C (p.Asp988=) rs111611128
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.377A>G (p.Glu126Gly) rs113411202
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005445.4(SMC3):c.724-6dup rs11380915
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup) rs797045997

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