ClinVar Miner

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

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
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.2264C>T (p.Pro755Leu) rs76568464
NM_005445.4(SMC3):c.2427+13C>T rs190798929
NM_005445.4(SMC3):c.257A>C (p.Asp86Ala) rs1554882236
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.377A>G (p.Glu126Gly) rs113411202

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