ClinVar Miner

List of variants in gene SMC3 studied for Inborn genetic diseases

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Total variants: 60
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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.1365T>C (p.Tyr455=) rs75323904 0.06157
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.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.2268+4C>T rs587784426 0.00004
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.1671-4T>C rs201392611 0.00001
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser) rs777828072 0.00001
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.1187A>G (p.Lys396Arg)
NM_005445.4(SMC3):c.1410-6_1410-3del rs546049291
NM_005445.4(SMC3):c.1484A>T (p.Gln495Leu)
NM_005445.4(SMC3):c.1557C>A (p.Phe519Leu) rs1246875158
NM_005445.4(SMC3):c.1655T>A (p.Val552Asp)
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del) rs755507236
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.255A>T (p.Ser85=) rs146433240
NM_005445.4(SMC3):c.2567G>A (p.Gly856Asp)
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys)
NM_005445.4(SMC3):c.2750A>C (p.His917Pro) rs797044861
NM_005445.4(SMC3):c.2892+3T>A
NM_005445.4(SMC3):c.3081A>G (p.Glu1027=)
NM_005445.4(SMC3):c.3114G>T (p.Lys1038Asn)
NM_005445.4(SMC3):c.3127G>A (p.Val1043Ile)
NM_005445.4(SMC3):c.3168G>A (p.Val1056=)
NM_005445.4(SMC3):c.3241T>C (p.Ser1081Pro)
NM_005445.4(SMC3):c.339G>A (p.Lys113=)
NM_005445.4(SMC3):c.3439C>G (p.Gln1147Glu) rs1861409519
NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala)
NM_005445.4(SMC3):c.367A>T (p.Asn123Tyr) rs1554882313
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg) rs748876063
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

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