ClinVar Miner

Variants in gene SMC3 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
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.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.1671-6A>G rs200848781 0.00124
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.2535+15T>G rs3818903 0.00040
NM_005445.4(SMC3):c.2982C>T (p.Ser994=) rs201308737 0.00003
NM_005445.4(SMC3):c.1410-6_1410-3del rs546049291
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378

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